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rsid Variant identifier from dbSNP database (Reference SNP ID) |
BP Genomic base-pair position of the variant (GRCh38) |
Ref Reference allele observed in the reference genome |
Alt Alternative (non-reference) allele |
Alt_Freq Frequency of the alternative allele based on gnomAD database (NFE) |
Evo2_7b_delta_score Delta score generated from the Evo2 7B model, representing predicted sequence effect |
Func.ensGene Functional annotation category assigned by Ensembl gene annotation (e.g., exonic, intronic, intergenic) |
Gene.ensGene Gene symbol annotated by Ensembl corresponding to the variant location |
GeneDetail.ensGene Detailed gene-related annotation, such as transcript or nearby gene information |
category Functional grouping/category for the variant based on cCRE annotation |
AAChange.ensGene Amino acid change and transcript-level annotation from Ensembl (e.g., protein coding consequence) |
phastCons100way Evolutionary conservation score from 100-way vertebrate alignment using phastCons |
phyloP100way Evolutionary conservation score from 100-way vertebrate alignment using phyloP |
rsid BP Ref Alt Alt_Freq 7b_noRC_delta_score Func.ensGene Gene.ensGene GeneDetail.ensGene category AAChange.ensGene phastCons100way phyloP100way category |
rs546169444 14464 A T 0.3046 -0.618583679199219 downstream DDX11L2 dist=55 Promoter/Flanking . 0 -0.9255 Promoter/Flanking |
rs141149254 54490 G A 0.243636 -1.2724609375 intergenic FAM138A;ENSG00000290826 dist=18409;dist=3108 Intergenic . 5e-04 0.208 Intergenic |
rs76735897 61987 A G 0.54088 17.041015625 ncRNA_intronic ENSG00000290826 . Intronic . 0.0275 -0.501 Intronic |
rs77573425 61989 G C 0.541108 13.025390625 ncRNA_intronic ENSG00000290826 . Intronic . 0.0525 1.277 Intronic |
rs769952832 64764 C T 0.0829649 3.43563842773438 upstream;downstream OR4F5;ENSG00000290826 dist=655;dist=648 Promoter/Flanking . 0 0.044 Promoter/Flanking |
rs62639104 64931 G A 0.062296 0.27734375 upstream;downstream OR4F5;ENSG00000290826 dist=488;dist=815 Promoter/Flanking . 0 -0.4065 Promoter/Flanking |
rs200298631 102951 C T 0.134361 11.5859375 ncRNA_intronic ENSG00000238009 . Intronic . 0.099 0.026 Intronic |
rs796977329 103984 G A 0.0800015 -27.19140625 ncRNA_intronic ENSG00000238009 . Intronic . 0.002 -1.2275 Intronic |
rs147538909 115746 C T 0.0575853 3.6220703125 ncRNA_intronic ENSG00000238009 . Intronic . 0.0035 -0.1695 Intronic |
rs1851943 121009 C T 0.62011 7.42578125 ncRNA_intronic ENSG00000238009 . Intronic . 0.004 -0.185 Intronic |
rs146756510 126108 G A 0.0508184 12.61328125 ncRNA_intronic ENSG00000238009 . Intronic . 0.0025 0.0545 Intronic |
rs371468694 133160 G A 0.0543743 -2.98291015625 intergenic ENSG00000238009;ENSG00000239906 dist=3943;dist=6630 Intergenic . 0.005 0.5045 Intergenic |
rs147502335 135203 G A 0.0648162 -0.1494140625 intergenic ENSG00000238009;ENSG00000239906 dist=5986;dist=4587 Intergenic . 0 -1.4305 Intergenic |
rs375595668 138593 G T 0.140688 -8.31219482422057 intergenic ENSG00000238009;ENSG00000239906 dist=9376;dist=1197 Intergenic . 0.008 0.7745 Intergenic |
rs62642132 139058 C G 0.0802528 0.93359375 downstream ENSG00000239906 dist=732 Promoter/Flanking . 0 -0.94 Promoter/Flanking |
rs370723703 139213 A G 0.295874 -10.016845703125 downstream ENSG00000239906 dist=577 Promoter/Flanking . 0 -0.7995 Promoter/Flanking |
rs373847457 139233 C A 0.296011 -22.4864501953143 downstream ENSG00000239906 dist=557 Promoter/Flanking . 0.001 0.097 Promoter/Flanking |
rs374474555 139393 G T 0.0565289 -2.927734375 downstream ENSG00000239906 dist=397 Promoter/Flanking . 0 -1.409 Promoter/Flanking |
rs1295339527 181022 C T 0.0993854 -0.7156982421875 intergenic ENSG00000241860;MIR6859-2 dist=7160;dist=6869 Intergenic . NA NA Intergenic |
rs1356961999 181481 AG A 0.051772 24.7885131835974 . . . Intergenic . NA NA Intergenic |
rs1211652841 181665 A ATC 0.0717393 -4.01458740234193 intergenic ENSG00000241860;MIR6859-2 dist=7803;dist=6226 Intergenic . NA NA Intergenic |
rs1182804190 188428 G A 0.0557538 4.1280517578125 upstream MIR6859-2 dist=470 Promoter/Flanking . 5e-04 -0.249 Promoter/Flanking |
rs112455420 263722 C G 0.13019 -0.7578125 ncRNA_exonic ENSG00000292994 . ncRNA . 5e-04 -1.023 ncRNA |
rs374525262 269507 G T 0.121409 -4.021484375 ncRNA_intronic ENSG00000292994 . Intronic . 0.0135 -0.3515 Intronic |
rs200000439 269781 C T 0.149125 2.939453125 ncRNA_intronic ENSG00000292994 . Intronic . 0.9295 -0.003 Intronic |
rs143434963 270684 C G 0.128441 1.703125 ncRNA_intronic ENSG00000292994 . Intronic . 0 -0.794 Intronic |
rs112327644 271276 G A 0.141887 -7.404296875 ncRNA_intronic ENSG00000292994 . Intronic . 0.0015 0.2395 Intronic |
rs78968278 275273 C A 0.157747 3.28125 ncRNA_intronic ENSG00000292994 . Intronic . 0.0025 -0.2655 Intronic |
rs202020431 275388 G A 0.162634 1.4765625 ncRNA_intronic ENSG00000292994 . Intronic . 0.0435 -0.0165 Intronic |
rs376115996 277801 G A 0.0633384 4.90625 ncRNA_intronic ENSG00000292994 . Intronic . 0.014 -0.138 Intronic |
rs202029170 278165 CAGG C 0.16509 57.59765625 . . . Intergenic . 0.051 0.3085 Intergenic |
rs375152006 280433 G A 0.108356 9.9541015625 ncRNA_intronic ENSG00000292994 . Intronic . 0.05 0.228 Intronic |
rs72502741 281876 AC A 0.169309 -1.0244140625 . . . Intergenic . 0.0715 0.3055 Intergenic |
rs202059662 284690 T C 0.0913808 -2.7939453125 ncRNA_intronic ENSG00000292994 . Intronic . 0.0025 -0.17 Intronic |
rs200373933 285386 T G 0.065518 2.2158203125 ncRNA_intronic ENSG00000292994 . Intronic . 0.007 -0.347 Intronic |
rs199745078 286172 G GTC 0.150263 12.828125 ncRNA_intronic ENSG00000292994 . Intronic . 5e-04 0.3005 Intronic |
rs369556846 286747 A G 0.180652 5.51953125 ncRNA_intronic ENSG00000292994 . Intronic . 0.0285 0.331 Intronic |
rs756558238 297604 TATA T 0.281509 64.9214477539062 . . . Intergenic . 0.003 -0.2635 Intergenic |
rs12354290 591463 G A 0.0993512 -1.37890625 ncRNA_intronic ENSG00000235146;ENSG00000293331 . Intronic . NA NA Intronic |
rs202086553 598862 C T 0.119863 4.62890625 ncRNA_intronic ENSG00000293331 . Intronic . NA NA Intronic |
rs1014108735 598938 G A 0.147003 -2.2265625 ncRNA_intronic ENSG00000293331 . Intronic . NA NA Intronic |
rs1353593295 598944 G T 0.240517 -14.2734375 ncRNA_intronic ENSG00000293331 . Intronic . NA NA Intronic |
rs145971835 599165 G A 0.0837837 3.11328125 ncRNA_intronic ENSG00000293331 . Intronic . NA NA Intronic |
rs188376087 599167 G A 0.0654022 -8.6015625 ncRNA_intronic ENSG00000293331 . Intronic . NA NA Intronic |
rs373722660 600428 A G 0.107873 11.2247009277344 ncRNA_intronic ENSG00000293331 . Intronic . NA NA Intronic |
rs866337386 605526 A G 0.0507021 3.25 ncRNA_intronic ENSG00000293331 . Intronic . 0.009 -0.631 Intronic |
rs12025928 611317 A G 0.898687 -2.3447265625 ncRNA_intronic ENSG00000293331 . Intronic . 0 -1.539 Intronic |
rs140182652 618362 G A 0.102345 12.0234375 ncRNA_intronic ENSG00000293331 . Intronic . 0.0475 -0.973 Intronic |
rs150334593 625776 T G 0.141592 15.44921875 ncRNA_intronic ENSG00000293331 . Intronic . 0.237 0.489 Intronic |
rs7416152 630211 C T 0.196716 0.549667358398438 ncRNA_intronic ENSG00000293331 . Intronic . 0 -1.0525 Intronic |
rs9283151 630596 C T 0.15259 -1.39902496337891 ncRNA_intronic ENSG00000293331 . Intronic . 0 -1.6435 Intronic |
rs6421780 630668 G A 0.152215 0.559909820556641 ncRNA_intronic ENSG00000293331 . Intronic . 0 -0.82 Intronic |
rs373437560 632834 C T 0.147481 -2.93593215942383 ncRNA_intronic ENSG00000293331 . Intronic . 0.9235 0.332 Intronic |
rs568242848 632928 G A 0.084272 -8.06135940551758 ncRNA_intronic ENSG00000293331 . Intronic . 0.9865 3.5535 Intronic |
rs377573539 633032 T C 0.145013 0.0863304138183594 ncRNA_intronic ENSG00000293331 . Intronic . 0.991 2.8085 Intronic |
rs78032279 633071 C T 0.144713 -3.19198226928711 ncRNA_intronic ENSG00000293331 . Intronic . 0.9995 2.9405 Intronic |
rs78857533 633098 C T 0.143906 -2.15996932983398 ncRNA_intronic ENSG00000293331 . Intronic . 1 1.0655 Intronic |
rs75769328 633182 A G 0.135648 -2.41307067871094 ncRNA_intronic ENSG00000293331 . Intronic . 0.67 0.8155 Intronic |
rs75348208 633209 T C 0.13603 1.0966796875 ncRNA_intronic ENSG00000293331 . Intronic . 0.005 -0.287 Intronic |
rs79386853 633230 C T 0.133263 -1.32586288452148 ncRNA_intronic ENSG00000293331 . Intronic . 0.562 2.6165 Intronic |
rs76167418 633251 C T 0.129761 -1.47830200195312 ncRNA_intronic ENSG00000293331 . Intronic . 0.5375 0.967 Intronic |
rs78639846 633264 T C 0.124375 3.09607696533203 ncRNA_intronic ENSG00000293331 . Intronic . 0.1225 1.4735 Intronic |
rs75654607 633290 T C 0.123874 2.27076721191406 ncRNA_intronic ENSG00000293331 . Intronic . 0.008 -0.673 Intronic |
rs78918217 633293 A G 0.123027 -7.39236068725586 ncRNA_intronic ENSG00000293331 . Intronic . 0.5585 1.5575 Intronic |
rs148329687 633329 A G 0.0865687 0.133655548095703 ncRNA_intronic ENSG00000293331 . Intronic . 0.3995 0.692 Intronic |
rs865812350 633375 G A 0.105487 -4.10705947875977 ncRNA_intronic ENSG00000293331 . Intronic . 0.9895 2.719 Intronic |
rs368347679 634553 G A 0.153294 -8.17965316772461 ncRNA_intronic ENSG00000293331 . Intronic . 1 6.494 Intronic |
rs76100803 641162 T C 0.0949827 12.2451171875 ncRNA_intronic ENSG00000293331 . Intronic . 0 -1.437 Intronic |
rs201868087 653408 C T 0.0547967 -7.6123046875 ncRNA_intronic ENSG00000293331 . Intronic . 0.0545 0.076 Intronic |
rs114979547 665098 G A 0.119823 14.6005859375 ncRNA_intronic ENSG00000293331 . Intronic . 0.043 0.0825 Intronic |
rs140845213 665761 C T 0.0846177 3.078125 ncRNA_intronic ENSG00000293331 . Intronic . 0.0435 -0.8405 Intronic |
rs143332664 666028 G A 0.106502 1.24609375 ncRNA_intronic ENSG00000293331 . Intronic . 0.058 0.146 Intronic |
rs376262309 690098 G T 0.0677358 -1.22924804687318 ncRNA_intronic ENSG00000293331 . Intronic . 0 -0.084 Intronic |
rs200090570 691306 CCT C 0.0695477 8.94189453124636 . . . Intergenic . 0.002 0.3495 Intergenic |
rs185127847 710225 T A 0.0667296 6.4619140625 ncRNA_intronic ENSG00000293331 . Intronic . 0.005 0.11 Intronic |
rs61769339 727242 G A 0.127445 15.0402832031268 ncRNA_exonic ENSG00000291215 . ncRNA . 0.6325 0.655 ncRNA |
rs200817576 736852 C T 0.0928627 7.10693359375 ncRNA_intronic ENSG00000291215 . Intronic . 0.0035 -0.477 Intronic |
rs146067153 740738 C T 0.0699026 -1.2265625 ncRNA_intronic ENSG00000291215 . Intronic . NA NA Intronic |
rs202057504 754982 G A 0.0616463 4.62890625 ncRNA_intronic ENSG00000291215 . Intronic . 0.0325 0.0595 Intronic |
rs201234755 766399 GAATA G 0.078365 83.58984375 . . . Intergenic . 0.0985 0.331 Intergenic |
rs142559957 769257 G A 0.0556243 -0.5390625 ncRNA_intronic ENSG00000291215 . Intronic . 0.0065 0.209 Intronic |
rs72631875 770502 G A 0.0739225 7.3203125 ncRNA_intronic ENSG00000291215 . Intronic . 0.0645 0.278 Intronic |
rs12029736 770988 A G 0.521792 -4.48828125 ncRNA_intronic ENSG00000291215 . Intronic . 0.0115 0.2985 Intronic |
rs200531508 775930 G A 0.0694117 9.8828125 ncRNA_intronic ENSG00000291215 . Intronic . 0.0215 -0.3635 Intronic |
rs12184279 782105 C A 0.0575796 1.64428710937682 ncRNA_exonic LINC01409 . ncRNA . 0.0025 -0.174 ncRNA |
rs1323158546 791100 G GGGA 0.119384 -108.2734375 ncRNA_intronic LINC01409 . Intronic . 0 -1.7985 Intronic |
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