chrom stringclasses 12
values | pos int64 36.1k 249M | ref stringclasses 4
values | alt stringclasses 4
values | label bool 2
classes | subset stringclasses 8
values | match_group int64 0 2.16k | rsid stringlengths 3 15 | pip float64 0 1 | traits stringclasses 279
values | MAF float64 0 0.5 | ld_score float64 1.01 3.79k | consequence stringclasses 13
values | consequence_cre stringclasses 29
values | exon_closest_pc_gene_id stringlengths 15 15 | distance_exon_pc int64 0 1.68M | exon_closest_nc_gene_id stringlengths 15 15 | distance_exon_nc int64 0 507k | distance_exon int64 0 507k | exon_closest_gene_id stringlengths 15 15 | consequence_final stringclasses 28
values | tss_closest_pc_gene_id stringlengths 15 15 | distance_tss_pc int64 0 1.69M | tss_closest_nc_gene_id stringlengths 15 15 | distance_tss_nc int64 0 531k | distance_tss int64 0 531k | tss_closest_gene_id stringlengths 15 15 | consequence_group stringclasses 8
values | distance_tss_pc_bin stringclasses 4
values | distance_exon_pc_bin stringclasses 7
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
17 | 28,611,633 | C | T | false | missense_variant | 835 | rs34026109 | 0.000177 | 0.033297 | 47.569 | missense_variant | missense_variant | ENSG00000167524 | 0 | ENSG00000167524 | 0 | 0 | ENSG00000167524 | missense_variant | ENSG00000167524 | 2,549 | ENSG00000227543 | 298 | 298 | ENSG00000227543 | missense_variant | NA | NA | |
17 | 28,632,128 | T | C | false | missense_variant | 829 | rs144880059 | 0.000308 | 0.001414 | 7.2811 | missense_variant | missense_variant | ENSG00000007202 | 0 | ENSG00000007202 | 0 | 0 | ENSG00000007202 | missense_variant | ENSG00000007202 | 1,524 | ENSG00000264044 | 1,077 | 1,077 | ENSG00000264044 | missense_variant | NA | NA | |
17 | 28,635,413 | G | A | false | missense_variant | 832 | rs146809533 | 0.000044 | 0.009971 | 20.469 | missense_variant | missense_variant | ENSG00000007202 | 0 | ENSG00000264044 | 0 | 0 | ENSG00000007202 | missense_variant | ENSG00000007202 | 1,759 | ENSG00000007202 | 742 | 742 | ENSG00000007202 | missense_variant | NA | NA | |
17 | 28,711,751 | A | G | false | 5_prime_UTR_variant | 893 | rs140056460 | 0.000067 | 0.011615 | 17.645 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000167525 | 0 | ENSG00000167525 | 68 | 0 | ENSG00000167525 | 5_prime_UTR_variant | ENSG00000167525 | 3 | ENSG00000167525 | 68 | 3 | ENSG00000167525 | 5_prime_UTR_variant | NA | NA | |
17 | 28,898,381 | G | A | false | 3_prime_UTR_variant | 910 | rs12947849 | 0.004244 | 0.17277 | 191.14 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167536 | 0 | ENSG00000266642 | 0 | 0 | ENSG00000167536 | 3_prime_UTR_variant | ENSG00000132589 | 647 | ENSG00000266642 | 599 | 599 | ENSG00000266642 | 3_prime_UTR_variant | NA | NA | |
17 | 28,951,244 | C | T | false | 5_prime_UTR_variant | 890 | rs543898174 | 0.00026 | 0.020373 | 70.454 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000109118 | 0 | ENSG00000109118 | 0 | 0 | ENSG00000109118 | 5_prime_UTR_variant | ENSG00000109118 | 62 | ENSG00000109118 | 112 | 62 | ENSG00000109118 | 5_prime_UTR_variant | NA | NA | |
17 | 28,957,425 | A | G | false | missense_variant | 817 | rs12941884 | 0.002447 | 0.12686 | 176 | missense_variant | missense_variant | ENSG00000063015 | 0 | ENSG00000063015 | 0 | 0 | ENSG00000063015 | missense_variant | ENSG00000063015 | 985 | ENSG00000063015 | 387 | 387 | ENSG00000063015 | missense_variant | NA | NA | |
17 | 28,959,732 | G | A | false | missense_variant | 817 | rs9907950 | 0.000476 | 0.13007 | 66.6 | missense_variant | missense_variant | ENSG00000063015 | 0 | ENSG00000063015 | 0 | 0 | ENSG00000063015 | missense_variant | ENSG00000063015 | 1,240 | ENSG00000063015 | 1,918 | 1,240 | ENSG00000063015 | missense_variant | NA | NA | |
17 | 28,959,833 | T | C | false | missense_variant | 828 | rs1976165 | 0.000119 | 0.24919 | 80.566 | missense_variant | missense_variant | ENSG00000063015 | 0 | ENSG00000063015 | 0 | 0 | ENSG00000063015 | missense_variant | ENSG00000063015 | 1,139 | ENSG00000063015 | 2,019 | 1,139 | ENSG00000063015 | missense_variant | NA | NA | |
17 | 29,125,918 | C | T | false | missense_variant | 826 | rs11080077 | 0.000132 | 0.30083 | 141.44 | missense_variant | missense_variant | ENSG00000196535 | 0 | ENSG00000196535 | 1,933 | 0 | ENSG00000196535 | missense_variant | ENSG00000196535 | 14,464 | ENSG00000196535 | 2,073 | 2,073 | ENSG00000196535 | missense_variant | NA | NA | |
17 | 29,297,461 | A | G | false | distal | 906 | rs12943828 | 0.000865 | 0.40801 | 184.62 | intergenic_variant | intergenic_variant | ENSG00000108256 | 3,312 | ENSG00000264808 | 36,448 | 3,312 | ENSG00000108256 | intergenic_variant | ENSG00000108256 | 3,312 | ENSG00000239256 | 43,360 | 3,312 | ENSG00000108256 | distal | NA | NA | |
17 | 29,325,998 | C | T | true | distal | 921 | rs11653826 | 0.93408 | Neutro | 0.099602 | 106.35 | intergenic_variant | CA_flank | ENSG00000108256 | 31,849 | ENSG00000264808 | 7,911 | 7,911 | ENSG00000264808 | CA_flank | ENSG00000108256 | 31,849 | ENSG00000239256 | 14,823 | 14,823 | ENSG00000239256 | distal | NA | NA |
17 | 29,451,055 | C | T | true | distal | 873 | rs191010498 | 0.99825 | Plt | 0.010341 | 72.34 | intron_variant | dELS | ENSG00000160551 | 399 | ENSG00000160551 | 399 | 399 | ENSG00000160551 | dELS | ENSG00000160551 | 60,123 | ENSG00000202205 | 5,654 | 5,654 | ENSG00000202205 | distal | NA | NA |
17 | 29,562,968 | T | C | true | missense_variant | 825 | rs542939 | 1 | Height | 0.34367 | 24.883 | missense_variant | missense_variant | ENSG00000168792 | 0 | ENSG00000264031 | 2,268 | 0 | ENSG00000168792 | missense_variant | ENSG00000168792 | 4,068 | ENSG00000264031 | 2,420 | 2,420 | ENSG00000264031 | missense_variant | NA | NA |
17 | 29,583,077 | G | A | false | tss_proximal | 867 | rs55723507 | 0.002477 | 0.024932 | 77.607 | intron_variant | dELS | ENSG00000108262 | 39 | ENSG00000108262 | 174 | 39 | ENSG00000108262 | tss_proximal | ENSG00000108262 | 794 | ENSG00000108262 | 174 | 174 | ENSG00000108262 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 29,618,321 | T | C | false | non_coding_transcript_exon_variant | 863 | rs871014 | 0.009968 | 0.49767 | 397.45 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000167549 | 153 | ENSG00000167549 | 0 | 0 | ENSG00000167549 | non_coding_transcript_exon_variant | ENSG00000167549 | 3,099 | ENSG00000167549 | 203 | 203 | ENSG00000167549 | non_coding_transcript_exon_variant | NA | NA | |
17 | 29,630,921 | C | T | false | missense_variant | 830 | rs61737980 | 0.000296 | 0.025515 | 242.58 | missense_variant | missense_variant | ENSG00000141298 | 0 | ENSG00000167549 | 8,008 | 0 | ENSG00000141298 | missense_variant | ENSG00000141298 | 562 | ENSG00000167549 | 8,008 | 562 | ENSG00000141298 | missense_variant | NA | NA | |
17 | 29,969,309 | T | G | false | missense_variant | 824 | rs9897794 | 0.001759 | 0.47662 | 575.07 | missense_variant | missense_variant | ENSG00000176927 | 0 | ENSG00000176927 | 0 | 0 | ENSG00000176927 | missense_variant | ENSG00000176927 | 102 | ENSG00000264435 | 3,204 | 102 | ENSG00000176927 | missense_variant | NA | NA | |
17 | 30,102,388 | A | G | false | distal | 848 | rs575154826 | 0.000032 | 0.003939 | 97.108 | intron_variant | dELS_flank | ENSG00000176927 | 5,445 | ENSG00000176927 | 10,231 | 5,445 | ENSG00000176927 | dELS_flank | ENSG00000126653 | 14,392 | ENSG00000126653 | 13,132 | 13,132 | ENSG00000126653 | distal | NA | NA | |
17 | 30,273,119 | G | A | false | non_coding_transcript_exon_variant | 864 | rs117247295 | 0.00021 | 0.007117 | 27.65 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000108578 | 219 | ENSG00000108578 | 0 | 0 | ENSG00000108578 | non_coding_transcript_exon_variant | ENSG00000108578 | 14,794 | ENSG00000108578 | 10 | 10 | ENSG00000108578 | non_coding_transcript_exon_variant | NA | NA | |
17 | 30,296,963 | C | G | false | distal | 878 | rs8080300 | 0.003294 | 0.43647 | 303.11 | intergenic_variant | dELS | ENSG00000108578 | 4,920 | ENSG00000108578 | 4,906 | 4,906 | ENSG00000108578 | dELS | ENSG00000108578 | 4,920 | ENSG00000108578 | 4,906 | 4,906 | ENSG00000108578 | distal | NA | NA | |
17 | 30,750,175 | A | G | false | distal | 928 | rs7223803 | 0.001606 | 0.11699 | 749.85 | intron_variant | CA-CTCF_flank | ENSG00000176390 | 22,187 | ENSG00000264538 | 6,805 | 6,805 | ENSG00000264538 | CA-CTCF_flank | ENSG00000176390 | 35,817 | ENSG00000280069 | 11,992 | 11,992 | ENSG00000280069 | distal | NA | NA | |
17 | 30,750,419 | A | G | false | distal | 928 | rs2626985 | 0.003901 | 0.12003 | 731.21 | intron_variant | CA-CTCF_flank | ENSG00000176390 | 21,943 | ENSG00000264538 | 7,049 | 7,049 | ENSG00000264538 | CA-CTCF_flank | ENSG00000176390 | 35,573 | ENSG00000280069 | 12,236 | 12,236 | ENSG00000280069 | distal | NA | NA | |
17 | 30,772,431 | C | T | false | missense_variant | 813 | rs8065744 | 0.001291 | 0.11699 | 748.61 | missense_variant | missense_variant | ENSG00000176390 | 0 | ENSG00000176390 | 975 | 0 | ENSG00000176390 | missense_variant | ENSG00000176390 | 13,561 | ENSG00000264538 | 5,927 | 5,927 | ENSG00000264538 | missense_variant | NA | NA | |
17 | 30,784,095 | G | A | true | 3_prime_UTR_variant | 913 | rs141870697 | 0.92266 | FEV1FVC | 0.013757 | 26.434 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000176390 | 0 | ENSG00000176390 | 0 | 0 | ENSG00000176390 | 3_prime_UTR_variant | ENSG00000176390 | 1,897 | ENSG00000176390 | 317 | 317 | ENSG00000176390 | 3_prime_UTR_variant | NA | NA |
17 | 30,793,178 | T | G | false | tss_proximal | 926 | rs7211776 | 0.001889 | 0.12222 | 742.18 | intron_variant | pELS_flank | ENSG00000176390 | 271 | ENSG00000176390 | 271 | 271 | ENSG00000176390 | tss_proximal | ENSG00000176390 | 7,184 | ENSG00000266490 | 805 | 805 | ENSG00000266490 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
17 | 30,834,184 | A | T | false | missense_variant | 834 | rs9910051 | 0.001014 | 0.11168 | 619.12 | missense_variant | missense_variant | ENSG00000176208 | 0 | ENSG00000176208 | 0 | 0 | ENSG00000176208 | missense_variant | ENSG00000176208 | 2,217 | ENSG00000176208 | 1,024 | 1,024 | ENSG00000176208 | missense_variant | NA | NA | |
17 | 30,834,827 | G | A | false | missense_variant | 834 | rs17826219 | 0.003128 | 0.10662 | 619.9 | missense_variant | missense_variant | ENSG00000176208 | 0 | ENSG00000176208 | 0 | 0 | ENSG00000176208 | missense_variant | ENSG00000176208 | 2,860 | ENSG00000176208 | 381 | 381 | ENSG00000176208 | missense_variant | NA | NA | |
17 | 30,840,635 | A | C | false | missense_variant | 813 | rs3764421 | 0.003139 | 0.10677 | 618.6 | missense_variant | missense_variant | ENSG00000176208 | 0 | ENSG00000176208 | 0 | 0 | ENSG00000176208 | missense_variant | ENSG00000176208 | 8,668 | ENSG00000176208 | 5,425 | 5,425 | ENSG00000176208 | missense_variant | NA | NA | |
17 | 30,879,403 | G | T | true | splicing | 922 | rs6505216 | 1 | Height | 0.23362 | 162.48 | intron_variant | intron_variant | ENSG00000176208 | 19 | ENSG00000176208 | 2,963 | 19 | ENSG00000176208 | exon_proximal | ENSG00000172171 | 26,831 | ENSG00000263531 | 14,462 | 14,462 | ENSG00000263531 | splicing | NA | splicing:b1 |
17 | 30,887,369 | T | C | false | missense_variant | 815 | rs11657270 | 0.002852 | 0.10661 | 617.8 | missense_variant | missense_variant | ENSG00000176208 | 0 | ENSG00000172171 | 9,966 | 0 | ENSG00000176208 | missense_variant | ENSG00000172171 | 18,865 | ENSG00000275185 | 11,740 | 11,740 | ENSG00000275185 | missense_variant | NA | NA | |
17 | 30,906,326 | C | T | false | tss_proximal | 930 | rs2269915 | 0.003177 | 0.10659 | 617.49 | upstream_gene_variant | PLS | ENSG00000172171 | 87 | ENSG00000184060 | 17 | 17 | ENSG00000184060 | tss_proximal | ENSG00000172171 | 87 | ENSG00000184060 | 17 | 17 | ENSG00000184060 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
17 | 31,289,498 | G | T | false | distal | 861 | rs72815624 | 0.000037 | 0.139 | 204.71 | intron_variant | dELS_flank | ENSG00000126861 | 5,148 | ENSG00000196712 | 1,024 | 1,024 | ENSG00000196712 | dELS_flank | ENSG00000126861 | 7,740 | ENSG00000126861 | 7,731 | 7,731 | ENSG00000126861 | distal | NA | NA | |
17 | 31,303,872 | C | G | false | 3_prime_UTR_variant | 912 | rs187173865 | 0.000062 | 0.011476 | 20.58 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000185862 | 0 | ENSG00000265118 | 1,470 | 0 | ENSG00000185862 | 3_prime_UTR_variant | ENSG00000126861 | 6,632 | ENSG00000126861 | 6,332 | 6,332 | ENSG00000126861 | 3_prime_UTR_variant | NA | NA | |
17 | 31,304,100 | T | A | false | 3_prime_UTR_variant | 912 | rs17879264 | 0.000024 | 0.008121 | 179 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000185862 | 0 | ENSG00000265118 | 1,242 | 0 | ENSG00000185862 | 3_prime_UTR_variant | ENSG00000126861 | 6,860 | ENSG00000126861 | 6,560 | 6,560 | ENSG00000126861 | 3_prime_UTR_variant | NA | NA | |
17 | 31,432,217 | G | A | false | tss_proximal | 904 | rs178850 | 0.000087 | 0.46822 | 70.748 | intron_variant | dELS | ENSG00000131242 | 316 | ENSG00000131242 | 316 | 316 | ENSG00000131242 | tss_proximal | ENSG00000131242 | 657 | ENSG00000131242 | 403 | 403 | ENSG00000131242 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 31,521,192 | C | T | false | missense_variant | 819 | rs546945320 | 0.000039 | 0.000031 | 2.4252 | missense_variant | missense_variant | ENSG00000131242 | 0 | ENSG00000131242 | 0 | 0 | ENSG00000131242 | missense_variant | ENSG00000131242 | 33,083 | ENSG00000131242 | 285 | 285 | ENSG00000131242 | missense_variant | NA | NA | |
17 | 31,577,695 | A | G | false | distal | 872 | rs78871676 | 0.000959 | 0.010834 | 20.496 | intergenic_variant | dELS | ENSG00000131242 | 39,483 | ENSG00000228768 | 2,035 | 2,035 | ENSG00000228768 | dELS | ENSG00000131242 | 89,586 | ENSG00000283978 | 2,283 | 2,283 | ENSG00000283978 | distal | NA | NA | |
17 | 31,577,868 | T | C | false | distal | 872 | rs138296996 | 0.000134 | 0.009213 | 21.43 | intergenic_variant | dELS | ENSG00000131242 | 39,656 | ENSG00000228768 | 2,208 | 2,208 | ENSG00000228768 | dELS | ENSG00000131242 | 89,759 | ENSG00000283978 | 2,456 | 2,456 | ENSG00000283978 | distal | NA | NA | |
17 | 31,579,547 | G | A | false | distal | 872 | rs117245086 | 0.000207 | 0.003285 | 6.2657 | intergenic_variant | dELS | ENSG00000131242 | 41,335 | ENSG00000266877 | 3,614 | 3,614 | ENSG00000266877 | dELS | ENSG00000131242 | 91,438 | ENSG00000266877 | 3,614 | 3,614 | ENSG00000266877 | distal | NA | NA | |
17 | 31,579,582 | A | G | false | distal | 872 | rs17246483 | 0.000046 | 0.004142 | 15.027 | intergenic_variant | dELS | ENSG00000131242 | 41,370 | ENSG00000266877 | 3,579 | 3,579 | ENSG00000266877 | dELS | ENSG00000131242 | 91,473 | ENSG00000266877 | 3,579 | 3,579 | ENSG00000266877 | distal | NA | NA | |
17 | 31,856,838 | T | C | false | missense_variant | 817 | rs8068049 | 0.000038 | 0.12149 | 402.51 | missense_variant | missense_variant | ENSG00000172301 | 0 | ENSG00000172301 | 0 | 0 | ENSG00000172301 | missense_variant | ENSG00000172301 | 2,092 | ENSG00000172301 | 2,374 | 2,092 | ENSG00000172301 | missense_variant | NA | NA | |
17 | 31,863,064 | T | A | false | 3_prime_UTR_variant | 914 | rs739800 | 0.000059 | 0.14782 | 355.77 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000108651 | 0 | ENSG00000108651 | 109 | 0 | ENSG00000108651 | 3_prime_UTR_variant | ENSG00000172301 | 3,819 | ENSG00000172301 | 3,772 | 3,772 | ENSG00000172301 | 3_prime_UTR_variant | NA | NA | |
17 | 31,879,934 | C | T | false | distal | 849 | rs181666762 | 0.000068 | 0.001731 | 19.025 | intron_variant | dELS_flank | ENSG00000108651 | 638 | ENSG00000108651 | 246 | 246 | ENSG00000108651 | dELS_flank | ENSG00000108651 | 6,538 | ENSG00000108651 | 5,985 | 5,985 | ENSG00000108651 | distal | NA | NA | |
17 | 31,902,858 | G | T | false | distal | 839 | rs886223 | 0.000124 | 0.21123 | 319.9 | intergenic_variant | pELS | ENSG00000108651 | 1,149 | ENSG00000108651 | 1,149 | 1,149 | ENSG00000108651 | pELS | ENSG00000108651 | 1,149 | ENSG00000108651 | 1,149 | 1,149 | ENSG00000108651 | distal | NA | NA | |
17 | 31,994,743 | G | C | false | tss_proximal | 931 | rs473356 | 0.003652 | 0.13969 | 454.63 | intron_variant | intron_variant | ENSG00000178691 | 21 | ENSG00000178691 | 21 | 21 | ENSG00000178691 | tss_proximal | ENSG00000185158 | 12,639 | ENSG00000178691 | 389 | 389 | ENSG00000178691 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 32,031,491 | G | A | false | tss_proximal | 931 | rs10752705 | 0.000183 | 0.15833 | 64.086 | intron_variant | intron_variant | ENSG00000185158 | 32 | ENSG00000185158 | 32 | 32 | ENSG00000185158 | tss_proximal | ENSG00000185158 | 10,393 | ENSG00000185158 | 94 | 94 | ENSG00000185158 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 32,206,951 | A | G | false | missense_variant | 837 | rs16967164 | 0.000035 | 0.17516 | 343.2 | missense_variant | missense_variant | ENSG00000126858 | 0 | ENSG00000126858 | 0 | 0 | ENSG00000126858 | missense_variant | ENSG00000126858 | 25 | ENSG00000126858 | 0 | 0 | ENSG00000126858 | missense_variant | NA | NA | |
17 | 32,259,080 | C | T | false | distal | 861 | rs1039402 | 0.000163 | 0.13381 | 62.084 | intron_variant | dELS_flank | ENSG00000126858 | 5,705 | ENSG00000287506 | 37 | 37 | ENSG00000287506 | dELS_flank | ENSG00000141314 | 6,751 | ENSG00000287506 | 6,323 | 6,323 | ENSG00000287506 | distal | NA | NA | |
17 | 32,263,673 | C | G | false | distal | 845 | rs112528273 | 0.000313 | 0.034522 | 34.578 | intron_variant | pELS_flank | ENSG00000141314 | 2,158 | ENSG00000287506 | 1,591 | 1,591 | ENSG00000287506 | pELS_flank | ENSG00000141314 | 2,158 | ENSG00000287506 | 1,730 | 1,730 | ENSG00000287506 | distal | NA | NA | |
17 | 32,274,641 | G | A | false | distal | 854 | rs12185222 | 0.005355 | 0.27622 | 126.9 | intron_variant | dELS_flank | ENSG00000141314 | 6,715 | ENSG00000263674 | 5,745 | 5,745 | ENSG00000263674 | dELS_flank | ENSG00000141314 | 6,836 | ENSG00000263674 | 6,311 | 6,311 | ENSG00000263674 | distal | NA | NA | |
17 | 32,357,905 | C | G | false | distal | 877 | rs9914513 | 0.000308 | 0.33657 | 125.91 | intron_variant | dELS | ENSG00000010244 | 597 | ENSG00000265794 | 597 | 597 | ENSG00000010244 | dELS | ENSG00000010244 | 6,996 | ENSG00000010244 | 2,845 | 2,845 | ENSG00000010244 | distal | NA | NA | |
17 | 32,489,780 | C | T | false | 3_prime_UTR_variant | 916 | rs118075579 | 0.000034 | 0.037555 | 25.461 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000176749 | 0 | ENSG00000176749 | 259 | 0 | ENSG00000176749 | 3_prime_UTR_variant | ENSG00000176749 | 1,983 | ENSG00000176749 | 1,983 | 1,983 | ENSG00000176749 | 3_prime_UTR_variant | NA | NA | |
17 | 32,904,637 | A | G | false | distal | 841 | rs9910534 | 0.00047 | 0.42241 | 249.09 | intron_variant | pELS | ENSG00000006042 | 23,272 | ENSG00000236377 | 1,024 | 1,024 | ENSG00000236377 | pELS | ENSG00000006042 | 23,272 | ENSG00000236377 | 1,024 | 1,024 | ENSG00000236377 | distal | NA | NA | |
17 | 32,919,567 | T | C | false | distal | 860 | rs62067160 | 0.000258 | 0.18737 | 148.64 | intergenic_variant | dELS_flank | ENSG00000006042 | 8,342 | ENSG00000006042 | 8,636 | 8,342 | ENSG00000006042 | dELS_flank | ENSG00000006042 | 8,342 | ENSG00000006042 | 8,636 | 8,342 | ENSG00000006042 | distal | NA | NA | |
17 | 32,928,267 | C | A | false | tss_proximal | 930 | rs113869178 | 0.000044 | 0.12474 | 122.95 | intron_variant | PLS | ENSG00000006042 | 29 | ENSG00000006042 | 29 | 29 | ENSG00000006042 | tss_proximal | ENSG00000006042 | 56 | ENSG00000006042 | 62 | 56 | ENSG00000006042 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
17 | 32,952,585 | A | C | false | distal | 874 | rs1970988 | 0.00003 | 0.1271 | 116.01 | intergenic_variant | dELS | ENSG00000006042 | 7,478 | ENSG00000006042 | 16,116 | 7,478 | ENSG00000006042 | dELS | ENSG00000141316 | 17,790 | ENSG00000006042 | 21,197 | 17,790 | ENSG00000141316 | distal | NA | NA | |
17 | 32,953,195 | T | G | false | distal | 874 | rs2428356 | 0.000039 | 0.13182 | 121.72 | intergenic_variant | dELS | ENSG00000006042 | 8,088 | ENSG00000006042 | 16,726 | 8,088 | ENSG00000006042 | dELS | ENSG00000141316 | 17,180 | ENSG00000006042 | 21,807 | 17,180 | ENSG00000141316 | distal | NA | NA | |
17 | 32,953,351 | A | T | false | distal | 874 | rs2346386 | 0.000039 | 0.1318 | 121.76 | intergenic_variant | dELS | ENSG00000006042 | 8,244 | ENSG00000006042 | 16,882 | 8,244 | ENSG00000006042 | dELS | ENSG00000141316 | 17,024 | ENSG00000006042 | 21,963 | 17,024 | ENSG00000141316 | distal | NA | NA | |
17 | 32,996,814 | C | A | false | splicing | 909 | rs199911868 | 0.00006 | 0.000668 | 6.7992 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000141316 | 28 | ENSG00000141316 | 6 | 6 | ENSG00000141316 | splice_polypyrimidine_tract_variant | ENSG00000141316 | 4,944 | ENSG00000141316 | 3,962 | 3,962 | ENSG00000141316 | splicing | NA | splicing:b1 | |
17 | 33,274,804 | C | G | false | distal | 851 | rs12452394 | 0.000009 | 0.33222 | 78.919 | intron_variant | dELS_flank | ENSG00000108684 | 16,603 | ENSG00000108684 | 15,871 | 15,871 | ENSG00000108684 | dELS_flank | ENSG00000108684 | 18,490 | ENSG00000108684 | 16,302 | 16,302 | ENSG00000108684 | distal | NA | NA | |
17 | 33,274,815 | A | G | false | distal | 851 | rs12450140 | 0.000009 | 0.33222 | 78.918 | intron_variant | dELS_flank | ENSG00000108684 | 16,592 | ENSG00000108684 | 15,860 | 15,860 | ENSG00000108684 | dELS_flank | ENSG00000108684 | 18,479 | ENSG00000108684 | 16,291 | 16,291 | ENSG00000108684 | distal | NA | NA | |
17 | 34,130,247 | C | G | false | distal | 858 | rs559951505 | 0.000013 | 0.20623 | 51.655 | intron_variant | dELS_flank | ENSG00000108684 | 25,730 | ENSG00000252370 | 10,079 | 10,079 | ENSG00000252370 | dELS_flank | ENSG00000108684 | 27,046 | ENSG00000252370 | 10,079 | 10,079 | ENSG00000252370 | distal | NA | NA | |
17 | 34,264,977 | T | G | false | distal | 927 | rs1989055 | 0.000199 | 0.27571 | 102.33 | intergenic_variant | CA-CTCF | ENSG00000108688 | 5,243 | ENSG00000108691 | 7,773 | 5,243 | ENSG00000108688 | CA-CTCF | ENSG00000108688 | 5,243 | ENSG00000108691 | 9,691 | 5,243 | ENSG00000108688 | distal | NA | NA | |
17 | 34,265,049 | C | T | false | distal | 927 | rs1574904 | 0.000197 | 0.2757 | 102.33 | intergenic_variant | CA-CTCF | ENSG00000108688 | 5,171 | ENSG00000108691 | 7,845 | 5,171 | ENSG00000108688 | CA-CTCF | ENSG00000108688 | 5,171 | ENSG00000108691 | 9,763 | 5,171 | ENSG00000108688 | distal | NA | NA | |
17 | 34,286,399 | G | A | false | tss_proximal | 901 | rs41509752 | 0.000068 | 0.081528 | 87.692 | intron_variant | pELS_flank | ENSG00000172156 | 514 | ENSG00000108691 | 29,195 | 514 | ENSG00000172156 | tss_proximal | ENSG00000172156 | 656 | ENSG00000108691 | 31,113 | 656 | ENSG00000172156 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 34,362,550 | C | T | false | tss_proximal | 901 | rs118020611 | 0.00115 | 0.046253 | 37.353 | intron_variant | pELS | ENSG00000108702 | 535 | ENSG00000265614 | 30,321 | 535 | ENSG00000108702 | tss_proximal | ENSG00000108702 | 682 | ENSG00000265614 | 30,321 | 682 | ENSG00000108702 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 34,364,160 | T | C | false | tss_proximal | 901 | rs159276 | 0.000034 | 0.06968 | 77.003 | upstream_gene_variant | pELS_flank | ENSG00000108702 | 926 | ENSG00000265614 | 31,931 | 926 | ENSG00000108702 | tss_proximal | ENSG00000108702 | 926 | ENSG00000265614 | 31,931 | 926 | ENSG00000108702 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 34,373,831 | T | C | false | distal | 906 | rs159289 | 0.000021 | 0.43345 | 69.309 | intergenic_variant | intergenic_variant | ENSG00000108702 | 10,597 | ENSG00000265614 | 41,602 | 10,597 | ENSG00000108702 | intergenic_variant | ENSG00000108702 | 10,597 | ENSG00000265614 | 41,602 | 10,597 | ENSG00000108702 | distal | NA | NA | |
17 | 34,373,905 | A | G | false | distal | 906 | rs159290 | 0.000022 | 0.43367 | 69.414 | intergenic_variant | intergenic_variant | ENSG00000108702 | 10,671 | ENSG00000265614 | 41,676 | 10,671 | ENSG00000108702 | intergenic_variant | ENSG00000108702 | 10,671 | ENSG00000265614 | 41,676 | 10,671 | ENSG00000108702 | distal | NA | NA | |
17 | 34,572,593 | T | C | false | distal | 861 | rs9909899 | 0.000069 | 0.14715 | 31.299 | intergenic_variant | dELS_flank | ENSG00000181291 | 6,893 | ENSG00000197322 | 1,529 | 1,529 | ENSG00000197322 | dELS_flank | ENSG00000181291 | 6,893 | ENSG00000197322 | 6,555 | 6,555 | ENSG00000197322 | distal | NA | NA | |
17 | 34,598,270 | G | A | false | distal | 852 | rs1029742 | 0.00001 | 0.27954 | 18.637 | intron_variant | dELS_flank | ENSG00000181291 | 17,126 | ENSG00000278860 | 16,138 | 16,138 | ENSG00000278860 | dELS_flank | ENSG00000181291 | 18,687 | ENSG00000278860 | 16,138 | 16,138 | ENSG00000278860 | distal | NA | NA | |
17 | 34,959,602 | C | T | false | synonymous_variant | 894 | rs17852354 | 0.000207 | 0.046338 | 57.238 | synonymous_variant | synonymous_variant | ENSG00000132141 | 0 | ENSG00000198783 | 2,762 | 0 | ENSG00000132141 | synonymous_variant | ENSG00000132141 | 1,799 | ENSG00000198783 | 2,762 | 1,799 | ENSG00000132141 | synonymous_variant | NA | NA | |
17 | 34,959,645 | A | G | false | missense_variant | 816 | rs2230552 | 0.000072 | 0.21327 | 134.48 | missense_variant | missense_variant | ENSG00000132141 | 0 | ENSG00000198783 | 2,719 | 0 | ENSG00000132141 | missense_variant | ENSG00000132141 | 1,756 | ENSG00000198783 | 2,719 | 1,756 | ENSG00000132141 | missense_variant | NA | NA | |
17 | 35,106,468 | C | T | false | missense_variant | 813 | rs4796033 | 0.000042 | 0.13491 | 70.014 | missense_variant | missense_variant | ENSG00000267618 | 0 | ENSG00000185379 | 0 | 0 | ENSG00000267618 | missense_variant | ENSG00000185379 | 12,688 | ENSG00000252328 | 8,810 | 8,810 | ENSG00000252328 | missense_variant | NA | NA | |
17 | 35,148,982 | G | A | false | missense_variant | 830 | rs16970659 | 0.000121 | 0.035351 | 71.497 | missense_variant | missense_variant | ENSG00000141161 | 0 | ENSG00000073536 | 6,677 | 0 | ENSG00000141161 | missense_variant | ENSG00000141161 | 717 | ENSG00000073536 | 6,677 | 717 | ENSG00000141161 | missense_variant | NA | NA | |
17 | 35,352,421 | C | T | false | missense_variant | 830 | rs62079540 | 0.00002 | 0.036316 | 84.256 | missense_variant | missense_variant | ENSG00000172716 | 0 | ENSG00000172716 | 7,597 | 0 | ENSG00000172716 | missense_variant | ENSG00000172716 | 709 | ENSG00000267271 | 8,189 | 709 | ENSG00000172716 | missense_variant | NA | NA | |
17 | 35,391,821 | G | A | false | distal | 921 | rs2250516 | 0.000075 | 0.10928 | 38.618 | intergenic_variant | CA_flank | ENSG00000172716 | 18,119 | ENSG00000267711 | 9,056 | 9,056 | ENSG00000267711 | CA_flank | ENSG00000172716 | 18,119 | ENSG00000267711 | 11,184 | 11,184 | ENSG00000267711 | distal | NA | NA | |
17 | 35,432,017 | G | C | false | non_coding_transcript_exon_variant | 863 | rs772288 | 0.000132 | 0.49896 | 76.232 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000172123 | 170 | ENSG00000172123 | 0 | 0 | ENSG00000172123 | non_coding_transcript_exon_variant | ENSG00000172123 | 482 | ENSG00000172123 | 1,147 | 482 | ENSG00000172123 | non_coding_transcript_exon_variant | NA | NA | |
17 | 35,432,042 | C | T | false | non_coding_transcript_exon_variant | 863 | rs772287 | 0.000139 | 0.49905 | 76.152 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000172123 | 145 | ENSG00000172123 | 0 | 0 | ENSG00000172123 | non_coding_transcript_exon_variant | ENSG00000172123 | 457 | ENSG00000172123 | 1,122 | 457 | ENSG00000172123 | non_coding_transcript_exon_variant | NA | NA | |
17 | 35,441,362 | T | C | false | missense_variant | 838 | rs115402160 | 0.000049 | 0.010258 | 8.5839 | missense_variant | missense_variant | ENSG00000154760 | 0 | ENSG00000154760 | 0 | 0 | ENSG00000154760 | missense_variant | ENSG00000154760 | 4,647 | ENSG00000154760 | 2,591 | 2,591 | ENSG00000154760 | missense_variant | NA | NA | |
17 | 35,491,111 | G | A | false | non_coding_transcript_exon_variant | 863 | rs17631940 | 0.00041 | 0.49572 | 52.177 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000205045 | 3,253 | ENSG00000267046 | 0 | 0 | ENSG00000267046 | non_coding_transcript_exon_variant | ENSG00000205045 | 3,253 | ENSG00000267046 | 1,101 | 1,101 | ENSG00000267046 | non_coding_transcript_exon_variant | NA | NA | |
17 | 35,513,664 | T | C | false | distal | 840 | rs78062266 | 0.000028 | 0.015555 | 39.541 | intron_variant | pELS | ENSG00000205045 | 8,614 | ENSG00000255987 | 1,101 | 1,101 | ENSG00000255987 | pELS | ENSG00000205045 | 24,013 | ENSG00000255987 | 1,521 | 1,521 | ENSG00000255987 | distal | NA | NA | |
17 | 35,531,530 | A | G | false | distal | 860 | rs11656115 | 0.001766 | 0.19052 | 131.98 | intron_variant | dELS_flank | ENSG00000205045 | 6,042 | ENSG00000267035 | 8,508 | 6,042 | ENSG00000205045 | dELS_flank | ENSG00000205045 | 6,147 | ENSG00000286030 | 8,560 | 6,147 | ENSG00000205045 | distal | NA | NA | |
17 | 35,548,243 | T | A | true | missense_variant | 826 | rs8073060 | 1 | Plt | 0.29046 | 178.28 | missense_variant | missense_variant | ENSG00000236320 | 0 | ENSG00000267359 | 4,961 | 0 | ENSG00000236320 | missense_variant | ENSG00000236320 | 9,854 | ENSG00000267359 | 4,961 | 4,961 | ENSG00000267359 | missense_variant | NA | NA |
17 | 35,553,436 | C | G | false | missense_variant | 827 | rs78192414 | 0.00002 | 0.020817 | 46.493 | missense_variant | missense_variant | ENSG00000236320 | 0 | ENSG00000267359 | 0 | 0 | ENSG00000236320 | missense_variant | ENSG00000236320 | 4,661 | ENSG00000267359 | 230 | 230 | ENSG00000267359 | missense_variant | NA | NA | |
17 | 35,574,946 | C | G | false | 3_prime_UTR_variant | 915 | rs10068 | 0.000247 | 0.34418 | 216.62 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000108733 | 0 | ENSG00000267321 | 45 | 0 | ENSG00000108733 | 3_prime_UTR_variant | ENSG00000006125 | 3,099 | ENSG00000207297 | 1,288 | 1,288 | ENSG00000207297 | 3_prime_UTR_variant | NA | NA | |
17 | 35,855,337 | G | A | false | missense_variant | 813 | rs2306630 | 0.000046 | 0.12801 | 270.96 | missense_variant | missense_variant | ENSG00000270379 | 0 | ENSG00000270379 | 0 | 0 | ENSG00000270379 | missense_variant | ENSG00000270647 | 10,401 | ENSG00000271268 | 6,228 | 6,228 | ENSG00000271268 | missense_variant | NA | NA | |
17 | 35,865,347 | G | A | false | missense_variant | 838 | rs141724302 | 0.000021 | 0.009609 | 58.287 | missense_variant | missense_variant | ENSG00000270379 | 0 | ENSG00000270379 | 0 | 0 | ENSG00000270379 | missense_variant | ENSG00000270379 | 3,523 | ENSG00000270379 | 3,479 | 3,479 | ENSG00000270379 | missense_variant | NA | NA | |
17 | 35,865,404 | T | A | false | splicing | 909 | rs201680853 | 0.000064 | 0.000968 | 5.9437 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000270379 | 7 | ENSG00000270379 | 7 | 7 | ENSG00000270379 | splice_polypyrimidine_tract_variant | ENSG00000270379 | 3,466 | ENSG00000270379 | 3,422 | 3,422 | ENSG00000270379 | splicing | NA | splicing:b1 | |
17 | 35,929,902 | G | A | false | tss_proximal | 898 | rs2526327 | 0.000154 | 0.14737 | 213.82 | intron_variant | PLS_flank | ENSG00000278023 | 173 | ENSG00000278023 | 173 | 173 | ENSG00000278023 | tss_proximal | ENSG00000278023 | 379 | ENSG00000278023 | 379 | 379 | ENSG00000278023 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 35,931,003 | A | C | false | tss_proximal | 898 | rs2735475 | 0.000142 | 0.1476 | 213.17 | upstream_gene_variant | PLS_flank | ENSG00000278023 | 229 | ENSG00000278023 | 275 | 229 | ENSG00000278023 | tss_proximal | ENSG00000278023 | 229 | ENSG00000278023 | 275 | 229 | ENSG00000278023 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 35,939,097 | T | G | false | tss_proximal | 897 | rs77159570 | 0.00002 | 0.039728 | 45.891 | intron_variant | CA_flank | ENSG00000275722 | 120 | ENSG00000278023 | 8,369 | 120 | ENSG00000275722 | tss_proximal | ENSG00000275722 | 164 | ENSG00000278023 | 8,369 | 164 | ENSG00000275722 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 35,953,135 | G | A | false | distal | 848 | rs118178913 | 0.000027 | 0.007205 | 15.588 | intergenic_variant | dELS_flank | ENSG00000275722 | 9,421 | ENSG00000273736 | 10,352 | 9,421 | ENSG00000275722 | dELS_flank | ENSG00000275722 | 9,421 | ENSG00000273736 | 12,335 | 9,421 | ENSG00000275722 | distal | NA | NA | |
17 | 35,975,155 | G | A | false | distal | 850 | rs1635277 | 0.000021 | 0.23512 | 70.192 | intergenic_variant | dELS_flank | ENSG00000275152 | 1,343 | ENSG00000275152 | 1,337 | 1,337 | ENSG00000275152 | dELS_flank | ENSG00000275152 | 6,341 | ENSG00000275152 | 3,107 | 3,107 | ENSG00000275152 | distal | NA | NA | |
17 | 35,975,251 | G | T | false | distal | 850 | rs1635279 | 0.000021 | 0.23492 | 70.167 | intergenic_variant | dELS_flank | ENSG00000275152 | 1,247 | ENSG00000275152 | 1,241 | 1,241 | ENSG00000275152 | dELS_flank | ENSG00000275152 | 6,245 | ENSG00000275152 | 3,011 | 3,011 | ENSG00000275152 | distal | NA | NA | |
17 | 35,998,792 | G | A | false | tss_proximal | 866 | rs138438750 | 0.000024 | 0.004689 | 5.6655 | intron_variant | CA-H3K4me3 | ENSG00000275718 | 73 | ENSG00000275688 | 73 | 73 | ENSG00000275718 | tss_proximal | ENSG00000275718 | 421 | ENSG00000275944 | 2,626 | 421 | ENSG00000275718 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 36,000,390 | T | G | false | distal | 843 | rs860556 | 0.000054 | 0.18402 | 82.804 | intron_variant | pELS_flank | ENSG00000275718 | 1,026 | ENSG00000275688 | 1,026 | 1,026 | ENSG00000275718 | pELS_flank | ENSG00000275718 | 1,162 | ENSG00000275944 | 1,028 | 1,028 | ENSG00000275944 | distal | NA | NA | |
17 | 36,111,184 | A | G | false | distal | 841 | rs7207117 | 0.000195 | 0.39943 | 71.562 | downstream_gene_variant | pELS | ENSG00000275302 | 5,562 | ENSG00000276014 | 736 | 736 | ENSG00000276014 | pELS | ENSG00000275302 | 7,356 | ENSG00000276014 | 1,033 | 1,033 | ENSG00000276014 | distal | NA | NA | |
17 | 36,546,818 | A | G | false | 3_prime_UTR_variant | 916 | rs74479687 | 0.000061 | 0.038584 | 99.031 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000278311 | 0 | ENSG00000278311 | 1,000 | 0 | ENSG00000278311 | 3_prime_UTR_variant | ENSG00000278311 | 1,313 | ENSG00000278311 | 1,885 | 1,313 | ENSG00000278311 | 3_prime_UTR_variant | NA | NA |
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