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 | 686,083 | C | T | false | tss_proximal | 868 | rs58059004 | 0.000185 | 0.023578 | 189.35 | intron_variant | intron_variant | ENSG00000141252 | 77 | ENSG00000141252 | 893 | 77 | ENSG00000141252 | tss_proximal | ENSG00000141252 | 885 | ENSG00000141252 | 893 | 885 | ENSG00000141252 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 745,676 | T | C | false | synonymous_variant | 894 | rs12942598 | 0.00033 | 0.04588 | 32.376 | synonymous_variant | synonymous_variant | ENSG00000179409 | 0 | ENSG00000167695 | 2,791 | 0 | ENSG00000179409 | synonymous_variant | ENSG00000179409 | 3,674 | ENSG00000167695 | 4,011 | 3,674 | ENSG00000179409 | synonymous_variant | NA | NA | |
17 | 770,143 | T | G | false | missense_variant | 829 | rs145702773 | 0.000298 | 0.001565 | 4.6167 | missense_variant | missense_variant | ENSG00000167699 | 0 | ENSG00000167699 | 0 | 0 | ENSG00000167699 | missense_variant | ENSG00000167699 | 1,260 | ENSG00000167699 | 1,235 | 1,235 | ENSG00000167699 | missense_variant | NA | NA | |
17 | 980,190 | C | G | false | tss_proximal | 900 | rs75161666 | 0.001398 | 0.043271 | 48.772 | upstream_gene_variant | pELS | ENSG00000167693 | 413 | ENSG00000167693 | 727 | 413 | ENSG00000167693 | tss_proximal | ENSG00000167693 | 413 | ENSG00000167693 | 727 | 413 | ENSG00000167693 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 1,032,233 | T | C | false | tss_proximal | 903 | rs7207195 | 0.000308 | 0.35886 | 27.802 | intron_variant | PLS_flank | ENSG00000159842 | 394 | ENSG00000159842 | 414 | 394 | ENSG00000159842 | tss_proximal | ENSG00000159842 | 394 | ENSG00000159842 | 414 | 394 | ENSG00000159842 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 1,100,821 | C | G | false | tss_proximal | 931 | rs76815113 | 0.000391 | 0.14391 | 47.244 | intron_variant | pELS_flank | ENSG00000159842 | 85 | ENSG00000278794 | 185 | 85 | ENSG00000159842 | tss_proximal | ENSG00000159842 | 8,278 | ENSG00000278794 | 451 | 451 | ENSG00000278794 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 1,108,974 | G | A | false | missense_variant | 830 | rs145650014 | 0.000417 | 0.019224 | 18.754 | missense_variant | missense_variant | ENSG00000159842 | 0 | ENSG00000278794 | 7,700 | 0 | ENSG00000159842 | missense_variant | ENSG00000159842 | 125 | ENSG00000278794 | 7,700 | 125 | ENSG00000159842 | missense_variant | NA | NA | |
17 | 1,112,873 | C | T | false | distal | 846 | rs73293620 | 0.003474 | 0.12186 | 47.796 | intron_variant | dELS_flank | ENSG00000159842 | 2,402 | ENSG00000278794 | 11,599 | 2,402 | ENSG00000159842 | dELS_flank | ENSG00000159842 | 2,562 | ENSG00000278794 | 11,599 | 2,562 | ENSG00000159842 | distal | NA | NA | |
17 | 1,119,655 | G | C | false | distal | 883 | rs12937195 | 0.001968 | 0.35663 | 42.371 | intron_variant | dELS | ENSG00000159842 | 4,218 | ENSG00000159842 | 5,668 | 4,218 | ENSG00000159842 | dELS | ENSG00000159842 | 4,218 | ENSG00000278794 | 18,381 | 4,218 | ENSG00000159842 | distal | NA | NA | |
17 | 1,119,718 | C | T | false | distal | 883 | rs12947401 | 0.000141 | 0.35154 | 44.246 | intron_variant | dELS | ENSG00000159842 | 4,281 | ENSG00000159842 | 5,605 | 4,281 | ENSG00000159842 | dELS | ENSG00000159842 | 4,281 | ENSG00000278794 | 18,444 | 4,281 | ENSG00000159842 | distal | NA | NA | |
17 | 1,120,004 | C | T | false | distal | 883 | rs12948300 | 0.000742 | 0.35336 | 54.857 | intron_variant | dELS | ENSG00000159842 | 4,567 | ENSG00000159842 | 5,319 | 4,567 | ENSG00000159842 | dELS | ENSG00000159842 | 4,567 | ENSG00000278794 | 18,730 | 4,567 | ENSG00000159842 | distal | NA | NA | |
17 | 1,120,307 | C | T | false | distal | 883 | rs12949249 | 0.000269 | 0.36262 | 53.945 | intron_variant | dELS | ENSG00000159842 | 4,870 | ENSG00000159842 | 5,016 | 4,870 | ENSG00000159842 | dELS | ENSG00000159842 | 4,870 | ENSG00000278794 | 19,033 | 4,870 | ENSG00000159842 | distal | NA | NA | |
17 | 1,213,115 | C | T | false | distal | 880 | rs8079055 | 0.000732 | 0.0012 | 46.08 | intron_variant | dELS | ENSG00000159842 | 15,677 | ENSG00000159842 | 15,028 | 15,028 | ENSG00000159842 | dELS | ENSG00000159842 | 15,888 | ENSG00000159842 | 15,905 | 15,888 | ENSG00000159842 | distal | NA | NA | |
17 | 1,221,673 | C | T | false | distal | 854 | rs9709187 | 0.000102 | 0.27842 | 57.875 | intron_variant | dELS_flank | ENSG00000159842 | 7,119 | ENSG00000159842 | 6,470 | 6,470 | ENSG00000159842 | dELS_flank | ENSG00000159842 | 7,330 | ENSG00000159842 | 7,347 | 7,330 | ENSG00000159842 | distal | NA | NA | |
17 | 1,223,775 | A | G | false | distal | 878 | rs9747738 | 0.000365 | 0.43502 | 64.202 | intron_variant | dELS | ENSG00000159842 | 5,017 | ENSG00000159842 | 4,368 | 4,368 | ENSG00000159842 | dELS | ENSG00000159842 | 5,228 | ENSG00000159842 | 5,245 | 5,228 | ENSG00000159842 | distal | NA | NA | |
17 | 1,224,473 | A | G | false | distal | 878 | rs4075436 | 0.000227 | 0.43821 | 64.463 | intron_variant | dELS | ENSG00000159842 | 4,319 | ENSG00000159842 | 3,670 | 3,670 | ENSG00000159842 | dELS | ENSG00000159842 | 4,530 | ENSG00000159842 | 4,547 | 4,530 | ENSG00000159842 | distal | NA | NA | |
17 | 1,332,268 | C | T | false | distal | 874 | rs140247402 | 0.001077 | 0.1364 | 68.466 | intergenic_variant | dELS | ENSG00000108953 | 12,006 | ENSG00000108953 | 12,270 | 12,006 | ENSG00000108953 | dELS | ENSG00000108953 | 29,025 | ENSG00000280408 | 19,801 | 19,801 | ENSG00000280408 | distal | NA | NA | |
17 | 1,371,918 | A | G | false | distal | 861 | rs72818258 | 0.000697 | 0.14451 | 73.116 | intron_variant | dELS_flank | ENSG00000108953 | 2,176 | ENSG00000108953 | 2,176 | 2,176 | ENSG00000108953 | dELS_flank | ENSG00000108953 | 10,623 | ENSG00000108953 | 6,859 | 6,859 | ENSG00000108953 | distal | NA | NA | |
17 | 1,403,793 | A | G | false | distal | 847 | rs9747590 | 0.00173 | 0.34276 | 134.77 | intergenic_variant | dELS_flank | ENSG00000108953 | 3,570 | ENSG00000108953 | 3,583 | 3,570 | ENSG00000108953 | dELS_flank | ENSG00000108953 | 3,570 | ENSG00000108953 | 3,583 | 3,570 | ENSG00000108953 | distal | NA | NA | |
17 | 1,469,545 | C | T | true | missense_variant | 810 | rs61753655 | 0.99893 | Alb | 0.010918 | 14.049 | missense_variant | missense_variant | ENSG00000197879 | 0 | ENSG00000197879 | 0 | 0 | ENSG00000197879 | missense_variant | ENSG00000167193 | 13,312 | ENSG00000197879 | 673 | 673 | ENSG00000197879 | missense_variant | NA | NA |
17 | 1,469,567 | T | G | false | missense_variant | 810 | rs61753652 | 0.002032 | 0.009378 | 20.058 | missense_variant | missense_variant | ENSG00000197879 | 0 | ENSG00000197879 | 0 | 0 | ENSG00000197879 | missense_variant | ENSG00000167193 | 13,334 | ENSG00000197879 | 651 | 651 | ENSG00000197879 | missense_variant | NA | NA | |
17 | 1,470,224 | T | C | true | missense_variant | 811 | rs9905106 | 0.95172 | Alb | 0.26476 | 110.17 | missense_variant | missense_variant | ENSG00000197879 | 0 | ENSG00000197879 | 0 | 0 | ENSG00000197879 | missense_variant | ENSG00000167193 | 13,991 | ENSG00000197879 | 4 | 4 | ENSG00000197879 | missense_variant | NA | NA |
17 | 1,470,318 | C | T | false | missense_variant | 818 | rs8081370 | 0.000297 | 0.08963 | 47.898 | missense_variant | missense_variant | ENSG00000197879 | 0 | ENSG00000197879 | 0 | 0 | ENSG00000197879 | missense_variant | ENSG00000167193 | 14,085 | ENSG00000197879 | 98 | 98 | ENSG00000197879 | missense_variant | NA | NA | |
17 | 1,494,976 | G | A | false | 3_prime_UTR_variant | 915 | rs1059139 | 0.003334 | 0.34173 | 28.265 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000132376 | 0 | ENSG00000132376 | 590 | 0 | ENSG00000132376 | 3_prime_UTR_variant | ENSG00000197879 | 2,289 | ENSG00000132376 | 1,484 | 1,484 | ENSG00000132376 | 3_prime_UTR_variant | NA | NA | |
17 | 1,521,660 | G | A | false | splicing | 909 | rs540875375 | 0.000064 | 0.003327 | 6.2735 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000174238 | 14 | ENSG00000174238 | 14 | 14 | ENSG00000174238 | splice_polypyrimidine_tract_variant | ENSG00000132376 | 4,917 | ENSG00000236618 | 4,782 | 4,782 | ENSG00000236618 | splicing | NA | splicing:b1 | |
17 | 1,535,789 | T | A | false | missense_variant | 821 | rs182252296 | 0.000062 | 0.005306 | 7.3238 | missense_variant | missense_variant | ENSG00000174238 | 0 | ENSG00000174238 | 270 | 0 | ENSG00000174238 | missense_variant | ENSG00000174238 | 17,282 | ENSG00000174238 | 5,809 | 5,809 | ENSG00000174238 | missense_variant | NA | NA | |
17 | 1,562,258 | G | A | false | tss_proximal | 899 | rs537877498 | 0.000241 | 0.008328 | 14.567 | intron_variant | PLS_flank | ENSG00000174238 | 282 | ENSG00000174238 | 282 | 282 | ENSG00000174238 | tss_proximal | ENSG00000174238 | 371 | ENSG00000174238 | 487 | 371 | ENSG00000174238 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 1,578,353 | A | T | false | non_coding_transcript_exon_variant | 864 | rs188015639 | 0.00025 | 0.003955 | 14.22 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000167703 | 29 | ENSG00000167703 | 0 | 0 | ENSG00000167703 | non_coding_transcript_exon_variant | ENSG00000174238 | 15,560 | ENSG00000167703 | 351 | 351 | ENSG00000167703 | non_coding_transcript_exon_variant | NA | NA | |
17 | 1,606,754 | A | G | true | distal | 839 | rs9893867 | 0.99902 | HbA1c | 0.21499 | 34.577 | intron_variant | pELS | ENSG00000167703 | 1,668 | ENSG00000167703 | 1,477 | 1,477 | ENSG00000167703 | pELS | ENSG00000167703 | 1,668 | ENSG00000167703 | 1,477 | 1,477 | ENSG00000167703 | distal | NA | NA |
17 | 1,686,520 | G | A | false | distal | 845 | rs117452632 | 0.000346 | 0.037045 | 80.995 | intergenic_variant | pELS_flank | ENSG00000174231 | 1,652 | ENSG00000277597 | 1,368 | 1,368 | ENSG00000277597 | pELS_flank | ENSG00000174231 | 1,652 | ENSG00000174231 | 1,667 | 1,652 | ENSG00000174231 | distal | NA | NA | |
17 | 1,715,069 | T | C | true | distal | 843 | rs11078597 | 1 | ALP,Alb,P,TP | 0.18607 | 48.808 | intron_variant | pELS_flank | ENSG00000167716 | 1,453 | ENSG00000186594 | 615 | 615 | ENSG00000186594 | pELS_flank | ENSG00000167716 | 1,453 | ENSG00000283824 | 1,081 | 1,081 | ENSG00000283824 | distal | NA | NA |
17 | 1,733,880 | G | A | true | missense_variant | 812 | rs143688446 | 0.96883 | Alb | 0.005749 | 8.6367 | missense_variant | missense_variant | ENSG00000167716 | 0 | ENSG00000167716 | 0 | 0 | ENSG00000167716 | missense_variant | ENSG00000167716 | 5,669 | ENSG00000167716 | 2,695 | 2,695 | ENSG00000167716 | missense_variant | NA | NA |
17 | 1,745,270 | G | T | false | distal | 844 | rs75500393 | 0.003366 | 0.009822 | 12.378 | intron_variant | pELS_flank | ENSG00000167711 | 56 | ENSG00000262791 | 6,684 | 56 | ENSG00000167711 | pELS_flank | ENSG00000167711 | 2,243 | ENSG00000262791 | 6,684 | 2,243 | ENSG00000167711 | distal | NA | NA | |
17 | 1,749,150 | G | A | true | distal | 846 | rs118103201 | 1 | Alb | 0.11366 | 21.573 | intron_variant | dELS_flank | ENSG00000167711 | 409 | ENSG00000262791 | 10,564 | 409 | ENSG00000167711 | dELS_flank | ENSG00000167711 | 6,123 | ENSG00000262791 | 10,564 | 6,123 | ENSG00000167711 | distal | NA | NA |
17 | 1,758,535 | T | C | false | distal | 847 | rs59096313 | 0.005262 | 0.34605 | 64.175 | intergenic_variant | dELS_flank | ENSG00000167711 | 3,269 | ENSG00000132386 | 3,525 | 3,269 | ENSG00000167711 | dELS_flank | ENSG00000132386 | 3,493 | ENSG00000132386 | 3,525 | 3,493 | ENSG00000132386 | distal | NA | NA | |
17 | 1,762,838 | C | T | false | 5_prime_UTR_variant | 888 | rs72822439 | 0.000107 | 0.26146 | 114.75 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000132386 | 0 | ENSG00000132386 | 724 | 0 | ENSG00000132386 | 5_prime_UTR_variant | ENSG00000132386 | 8 | ENSG00000132386 | 769 | 8 | ENSG00000132386 | 5_prime_UTR_variant | NA | NA | |
17 | 1,787,458 | G | A | false | missense_variant | 826 | rs11549830 | 0.001394 | 0.32122 | 71.245 | missense_variant | missense_variant | ENSG00000186532 | 0 | ENSG00000186532 | 3,594 | 0 | ENSG00000186532 | missense_variant | ENSG00000186532 | 13,346 | ENSG00000186532 | 3,594 | 3,594 | ENSG00000186532 | missense_variant | NA | NA | |
17 | 1,792,504 | G | A | false | distal | 860 | rs6502964 | 0.000298 | 0.185 | 119.9 | intron_variant | dELS_flank | ENSG00000186532 | 4,899 | ENSG00000186532 | 8,640 | 4,899 | ENSG00000186532 | dELS_flank | ENSG00000186532 | 8,300 | ENSG00000186532 | 8,640 | 8,300 | ENSG00000186532 | distal | NA | NA | |
17 | 1,793,350 | C | T | false | distal | 860 | rs12600664 | 0.000349 | 0.18011 | 120.34 | intron_variant | dELS_flank | ENSG00000186532 | 5,745 | ENSG00000186532 | 9,486 | 5,745 | ENSG00000186532 | dELS_flank | ENSG00000186532 | 7,454 | ENSG00000186532 | 9,486 | 7,454 | ENSG00000186532 | distal | NA | NA | |
17 | 1,812,141 | G | A | false | splicing | 923 | rs7503422 | 0.000533 | 0.19349 | 123.37 | intron_variant | intron_variant | ENSG00000186532 | 25 | ENSG00000186532 | 25 | 25 | ENSG00000186532 | exon_proximal | ENSG00000186532 | 11,335 | ENSG00000186532 | 17,668 | 11,335 | ENSG00000186532 | splicing | NA | splicing:b1 | |
17 | 1,827,974 | T | C | false | synonymous_variant | 895 | rs8067660 | 0.000369 | 0.19678 | 124.44 | synonymous_variant | synonymous_variant | ENSG00000186532 | 0 | ENSG00000186532 | 0 | 0 | ENSG00000186532 | synonymous_variant | ENSG00000186532 | 1,484 | ENSG00000186532 | 1,835 | 1,484 | ENSG00000186532 | synonymous_variant | NA | NA | |
17 | 1,829,417 | C | T | false | 5_prime_UTR_variant | 886 | rs17338480 | 0.000774 | 0.005169 | 15.201 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000186532 | 0 | ENSG00000186532 | 308 | 0 | ENSG00000186532 | 5_prime_UTR_variant | ENSG00000186532 | 41 | ENSG00000186532 | 392 | 41 | ENSG00000186532 | 5_prime_UTR_variant | NA | NA | |
17 | 1,879,658 | A | G | true | missense_variant | 813 | rs5030755 | 1 | Age_at_Menopause,MCH,MCV | 0.11977 | 49.63 | missense_variant | missense_variant | ENSG00000132383 | 0 | ENSG00000132383 | 352 | 0 | ENSG00000132383 | missense_variant | ENSG00000132383 | 622 | ENSG00000132383 | 7,530 | 622 | ENSG00000132383 | missense_variant | NA | NA |
17 | 1,880,518 | T | C | false | splicing | 922 | rs2277694 | 0.000169 | 0.23075 | 128.92 | intron_variant | dELS_flank | ENSG00000132383 | 24 | ENSG00000132383 | 1,212 | 24 | ENSG00000132383 | exon_proximal | ENSG00000132383 | 1,482 | ENSG00000132383 | 8,390 | 1,482 | ENSG00000132383 | splicing | NA | splicing:b1 | |
17 | 1,993,087 | G | A | false | distal | 862 | rs6503140 | 0.006585 | 0.48305 | 64.253 | intron_variant | dELS_flank | ENSG00000185924 | 31,765 | ENSG00000262445 | 2,526 | 2,526 | ENSG00000262445 | dELS_flank | ENSG00000185924 | 32,246 | ENSG00000262445 | 2,526 | 2,526 | ENSG00000262445 | distal | NA | NA | |
17 | 2,036,938 | A | G | false | missense_variant | 837 | rs1131600 | 0.005352 | 0.18099 | 90.768 | missense_variant | missense_variant | ENSG00000108963 | 0 | ENSG00000108963 | 0 | 0 | ENSG00000108963 | missense_variant | ENSG00000108963 | 3,401 | ENSG00000108963 | 42 | 42 | ENSG00000108963 | missense_variant | NA | NA | |
17 | 2,198,444 | G | A | false | distal | 840 | rs80314051 | 0.000294 | 0.018366 | 23.191 | intron_variant | pELS | ENSG00000070366 | 9,928 | ENSG00000265777 | 1,317 | 1,317 | ENSG00000265777 | pELS | ENSG00000070366 | 14,292 | ENSG00000265777 | 1,317 | 1,317 | ENSG00000265777 | distal | NA | NA | |
17 | 2,222,156 | A | C | false | distal | 854 | rs1231207 | 0.00779 | 0.27625 | 173.3 | intron_variant | dELS_flank | ENSG00000070366 | 7,166 | ENSG00000236457 | 6,140 | 6,140 | ENSG00000236457 | dELS_flank | ENSG00000070366 | 7,307 | ENSG00000236457 | 6,140 | 6,140 | ENSG00000236457 | distal | NA | NA | |
17 | 2,245,934 | C | T | false | distal | 846 | rs12945851 | 0.003503 | 0.10922 | 80.305 | intron_variant | dELS_flank | ENSG00000070366 | 1,021 | ENSG00000280242 | 9,784 | 1,021 | ENSG00000070366 | dELS_flank | ENSG00000070366 | 1,021 | ENSG00000280242 | 9,784 | 1,021 | ENSG00000070366 | distal | NA | NA | |
17 | 2,299,029 | T | C | false | missense_variant | 830 | rs34047637 | 0.001316 | 0.042509 | 35.221 | missense_variant | missense_variant | ENSG00000070366 | 0 | ENSG00000262333 | 7,731 | 0 | ENSG00000070366 | missense_variant | ENSG00000167720 | 4,353 | ENSG00000262333 | 7,731 | 4,353 | ENSG00000167720 | missense_variant | NA | NA | |
17 | 2,306,577 | C | T | false | tss_proximal | 903 | rs4606747 | 0.000787 | 0.35886 | 321.31 | intron_variant | intron_variant | ENSG00000167720 | 458 | ENSG00000262333 | 183 | 183 | ENSG00000262333 | tss_proximal | ENSG00000167720 | 458 | ENSG00000262333 | 183 | 183 | ENSG00000262333 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 2,330,952 | C | T | false | missense_variant | 836 | rs148862735 | 0.000179 | 0.002154 | 9.2554 | missense_variant | missense_variant | ENSG00000167721 | 0 | ENSG00000167721 | 0 | 0 | ENSG00000167721 | missense_variant | ENSG00000167721 | 5,504 | ENSG00000167721 | 13 | 13 | ENSG00000167721 | missense_variant | NA | NA | |
17 | 2,335,392 | C | T | false | missense_variant | 829 | rs148773339 | 0.00055 | 0.000994 | 8.0149 | missense_variant | missense_variant | ENSG00000167721 | 0 | ENSG00000167721 | 0 | 0 | ENSG00000167721 | missense_variant | ENSG00000167721 | 1,064 | ENSG00000167721 | 1,050 | 1,050 | ENSG00000167721 | missense_variant | NA | NA | |
17 | 2,343,860 | C | A | false | distal | 849 | rs568366836 | 0.002863 | 0.00135 | 8.4067 | intron_variant | dELS_flank | ENSG00000141258 | 239 | ENSG00000141258 | 239 | 239 | ENSG00000141258 | dELS_flank | ENSG00000141258 | 6,237 | ENSG00000141258 | 6,353 | 6,237 | ENSG00000141258 | distal | NA | NA | |
17 | 2,364,845 | G | C | false | non_coding_transcript_exon_variant | 863 | rs2447099 | 0.000377 | 0.4929 | 147.16 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000141258 | 51 | ENSG00000141258 | 0 | 0 | ENSG00000141258 | non_coding_transcript_exon_variant | ENSG00000141258 | 1,282 | ENSG00000141258 | 999 | 999 | ENSG00000141258 | non_coding_transcript_exon_variant | NA | NA | |
17 | 2,415,894 | C | A | false | non_coding_transcript_exon_variant | 864 | rs551921403 | 0.000207 | 0.004491 | 11.912 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000127804 | 154 | ENSG00000127804 | 0 | 0 | ENSG00000127804 | non_coding_transcript_exon_variant | ENSG00000070444 | 14,789 | ENSG00000127804 | 44 | 44 | ENSG00000127804 | non_coding_transcript_exon_variant | NA | NA | |
17 | 2,577,032 | T | C | false | distal | 928 | rs12449624 | 0.001103 | 0.11964 | 54.713 | intergenic_variant | CA-CTCF_flank | ENSG00000007168 | 16,177 | ENSG00000262953 | 9,297 | 9,297 | ENSG00000262953 | CA-CTCF_flank | ENSG00000007168 | 16,177 | ENSG00000262953 | 10,833 | 10,833 | ENSG00000262953 | distal | NA | NA | |
17 | 2,577,051 | T | C | false | distal | 928 | rs374308506 | 0.000279 | 0.11844 | 53.706 | intergenic_variant | CA-CTCF_flank | ENSG00000007168 | 16,158 | ENSG00000262953 | 9,278 | 9,278 | ENSG00000262953 | CA-CTCF_flank | ENSG00000007168 | 16,158 | ENSG00000262953 | 10,814 | 10,814 | ENSG00000262953 | distal | NA | NA | |
17 | 2,577,052 | G | A | false | distal | 928 | rs12451193 | 0.000272 | 0.11826 | 53.756 | intergenic_variant | CA-CTCF_flank | ENSG00000007168 | 16,157 | ENSG00000262953 | 9,277 | 9,277 | ENSG00000262953 | CA-CTCF_flank | ENSG00000007168 | 16,157 | ENSG00000262953 | 10,813 | 10,813 | ENSG00000262953 | distal | NA | NA | |
17 | 2,594,337 | C | A | false | 5_prime_UTR_variant | 886 | rs550609605 | 0.000078 | 0.005769 | 17.465 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000007168 | 0 | ENSG00000007168 | 330 | 0 | ENSG00000007168 | 5_prime_UTR_variant | ENSG00000007168 | 9 | ENSG00000007168 | 366 | 9 | ENSG00000007168 | 5_prime_UTR_variant | NA | NA | |
17 | 2,597,679 | A | G | false | distal | 847 | rs7216860 | 0.000263 | 0.34274 | 174.95 | intron_variant | dELS_flank | ENSG00000007168 | 3,284 | ENSG00000007168 | 3,672 | 3,284 | ENSG00000007168 | dELS_flank | ENSG00000007168 | 3,351 | ENSG00000007168 | 3,708 | 3,351 | ENSG00000007168 | distal | NA | NA | |
17 | 2,671,527 | G | A | true | non_coding_transcript_exon_variant | 863 | rs12938775 | 0.98164 | Worrier | 0.49835 | 57.07 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000007168 | 1,127 | ENSG00000007168 | 0 | 0 | ENSG00000007168 | non_coding_transcript_exon_variant | ENSG00000007168 | 1,258 | ENSG00000007168 | 776 | 776 | ENSG00000007168 | non_coding_transcript_exon_variant | NA | NA |
17 | 2,995,998 | A | G | false | distal | 853 | rs4790406 | 0.000455 | 0.17152 | 27.54 | intron_variant | dELS_flank | ENSG00000132359 | 531 | ENSG00000132359 | 531 | 531 | ENSG00000132359 | dELS_flank | ENSG00000132359 | 56,046 | ENSG00000132359 | 4,652 | 4,652 | ENSG00000132359 | distal | NA | NA | |
17 | 2,996,151 | C | G | false | distal | 853 | rs4790111 | 0.000484 | 0.1844 | 26.659 | intron_variant | dELS_flank | ENSG00000132359 | 684 | ENSG00000132359 | 684 | 684 | ENSG00000132359 | dELS_flank | ENSG00000132359 | 56,199 | ENSG00000132359 | 4,805 | 4,805 | ENSG00000132359 | distal | NA | NA | |
17 | 2,997,010 | C | A | false | distal | 873 | rs77940126 | 0.000196 | 0.002752 | 20.779 | intron_variant | dELS | ENSG00000132359 | 1,210 | ENSG00000132359 | 1,210 | 1,210 | ENSG00000132359 | dELS | ENSG00000132359 | 57,058 | ENSG00000132359 | 5,664 | 5,664 | ENSG00000132359 | distal | NA | NA | |
17 | 2,997,054 | C | T | false | distal | 873 | rs117088531 | 0.000174 | 0.012099 | 14.843 | intron_variant | dELS | ENSG00000132359 | 1,166 | ENSG00000132359 | 1,166 | 1,166 | ENSG00000132359 | dELS | ENSG00000132359 | 57,102 | ENSG00000132359 | 5,708 | 5,708 | ENSG00000132359 | distal | NA | NA | |
17 | 3,132,006 | G | T | false | distal | 919 | rs7222962 | 0.000312 | 0.15645 | 126.37 | intergenic_variant | CA_flank | ENSG00000183024 | 4,454 | ENSG00000261848 | 2,962 | 2,962 | ENSG00000261848 | CA_flank | ENSG00000183024 | 4,454 | ENSG00000142163 | 15,578 | 4,454 | ENSG00000183024 | distal | NA | NA | |
17 | 3,278,368 | G | C | false | missense_variant | 815 | rs9901356 | 0.000729 | 0.10722 | 276.11 | missense_variant | missense_variant | ENSG00000221882 | 0 | ENSG00000221882 | 6,030 | 0 | ENSG00000221882 | missense_variant | ENSG00000221882 | 605 | ENSG00000262106 | 12,756 | 605 | ENSG00000221882 | missense_variant | NA | NA | |
17 | 3,440,225 | T | C | false | synonymous_variant | 895 | rs17822627 | 0.000099 | 0.19264 | 209.21 | synonymous_variant | synonymous_variant | ENSG00000141255 | 0 | ENSG00000280268 | 0 | 0 | ENSG00000141255 | synonymous_variant | ENSG00000127780 | 6,383 | ENSG00000280268 | 1,618 | 1,618 | ENSG00000280268 | synonymous_variant | NA | NA | |
17 | 3,528,093 | T | A | false | missense_variant | 810 | rs114131791 | 0.000124 | 0.009952 | 16.504 | missense_variant | missense_variant | ENSG00000167723 | 0 | ENSG00000167723 | 0 | 0 | ENSG00000167723 | missense_variant | ENSG00000141255 | 14,240 | ENSG00000167723 | 894 | 894 | ENSG00000167723 | missense_variant | NA | NA | |
17 | 3,559,573 | T | C | false | distal | 839 | rs4790520 | 0.000094 | 0.21777 | 36.363 | intergenic_variant | pELS | ENSG00000167723 | 1,760 | ENSG00000167723 | 1,766 | 1,760 | ENSG00000167723 | pELS | ENSG00000167723 | 1,760 | ENSG00000167723 | 1,766 | 1,760 | ENSG00000167723 | distal | NA | NA | |
17 | 3,585,950 | G | A | false | splicing | 922 | rs161394 | 0.000725 | 0.23407 | 41.741 | intron_variant | dELS | ENSG00000196689 | 23 | ENSG00000196689 | 23 | 23 | ENSG00000196689 | exon_proximal | ENSG00000196689 | 6,399 | ENSG00000196689 | 6,416 | 6,399 | ENSG00000196689 | splicing | NA | splicing:b1 | |
17 | 3,589,906 | C | G | false | missense_variant | 828 | rs222747 | 0.000504 | 0.23838 | 41.115 | missense_variant | missense_variant | ENSG00000196689 | 0 | ENSG00000262304 | 0 | 0 | ENSG00000196689 | missense_variant | ENSG00000196689 | 2,443 | ENSG00000196689 | 2,460 | 2,443 | ENSG00000196689 | missense_variant | NA | NA | |
17 | 3,608,793 | C | T | false | 3_prime_UTR_variant | 912 | rs55784846 | 0.000408 | 0.011728 | 11.253 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000197417 | 0 | ENSG00000262304 | 515 | 0 | ENSG00000197417 | 3_prime_UTR_variant | ENSG00000196689 | 617 | ENSG00000261916 | 6,520 | 617 | ENSG00000196689 | 3_prime_UTR_variant | NA | NA | |
17 | 3,717,423 | G | T | false | non_coding_transcript_exon_variant | 863 | rs1431977 | 0.000086 | 0.49777 | 122.5 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000083457 | 624 | ENSG00000083457 | 0 | 0 | ENSG00000083457 | non_coding_transcript_exon_variant | ENSG00000177602 | 6,479 | ENSG00000083457 | 955 | 955 | ENSG00000083457 | non_coding_transcript_exon_variant | NA | NA | |
17 | 3,753,865 | C | T | false | missense_variant | 811 | rs2272606 | 0.000148 | 0.27191 | 67.915 | missense_variant | missense_variant | ENSG00000083457 | 0 | ENSG00000083457 | 0 | 0 | ENSG00000083457 | missense_variant | ENSG00000083457 | 10,324 | ENSG00000083457 | 830 | 830 | ENSG00000083457 | missense_variant | NA | NA | |
17 | 3,805,771 | A | G | false | 3_prime_UTR_variant | 917 | rs73974127 | 0.000107 | 0.061745 | 44.651 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000074356 | 0 | ENSG00000074356 | 2,388 | 0 | ENSG00000074356 | 3_prime_UTR_variant | ENSG00000083457 | 4,582 | ENSG00000074356 | 2,388 | 2,388 | ENSG00000074356 | 3_prime_UTR_variant | NA | NA | |
17 | 3,805,772 | T | C | false | 3_prime_UTR_variant | 917 | rs72825436 | 0.000099 | 0.061655 | 44.593 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000074356 | 0 | ENSG00000074356 | 2,389 | 0 | ENSG00000074356 | 3_prime_UTR_variant | ENSG00000083457 | 4,583 | ENSG00000074356 | 2,389 | 2,389 | ENSG00000074356 | 3_prime_UTR_variant | NA | NA | |
17 | 3,806,224 | A | G | false | 3_prime_UTR_variant | 917 | rs56353992 | 0.0001 | 0.06202 | 44.697 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000074356 | 0 | ENSG00000074356 | 2,841 | 0 | ENSG00000074356 | 3_prime_UTR_variant | ENSG00000083457 | 5,035 | ENSG00000074356 | 2,841 | 2,841 | ENSG00000074356 | 3_prime_UTR_variant | NA | NA | |
17 | 3,806,297 | T | C | false | 3_prime_UTR_variant | 917 | rs147648960 | 0.000468 | 0.058153 | 7.5206 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000074356 | 0 | ENSG00000074356 | 2,914 | 0 | ENSG00000074356 | 3_prime_UTR_variant | ENSG00000083457 | 5,108 | ENSG00000074356 | 2,914 | 2,914 | ENSG00000074356 | 3_prime_UTR_variant | NA | NA | |
17 | 3,809,631 | C | T | false | 3_prime_UTR_variant | 912 | rs149341287 | 0.000031 | 0.012922 | 26.333 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000074356 | 0 | ENSG00000074356 | 1,891 | 0 | ENSG00000074356 | 3_prime_UTR_variant | ENSG00000074356 | 3,618 | ENSG00000074356 | 6,248 | 3,618 | ENSG00000074356 | 3_prime_UTR_variant | NA | NA | |
17 | 3,862,305 | C | G | false | splicing | 923 | rs177985 | 0.001035 | 0.19767 | 30.747 | intron_variant | dELS_flank | ENSG00000004660 | 21 | ENSG00000004660 | 16,525 | 21 | ENSG00000004660 | exon_proximal | ENSG00000074356 | 16,058 | ENSG00000004660 | 32,585 | 16,058 | ENSG00000074356 | splicing | NA | splicing:b1 | |
17 | 3,930,885 | T | C | false | tss_proximal | 898 | rs55673593 | 0.00041 | 0.14733 | 101.22 | intron_variant | dELS | ENSG00000074370 | 450 | ENSG00000074370 | 13 | 13 | ENSG00000074370 | tss_proximal | ENSG00000074370 | 513 | ENSG00000074370 | 13 | 13 | ENSG00000074370 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 4,081,396 | C | T | false | missense_variant | 821 | rs559335570 | 0.000045 | 0.000529 | 3.8995 | missense_variant | missense_variant | ENSG00000074755 | 0 | ENSG00000074755 | 0 | 0 | ENSG00000074755 | missense_variant | ENSG00000074755 | 18,597 | ENSG00000074755 | 6,215 | 6,215 | ENSG00000074755 | missense_variant | NA | NA | |
17 | 4,143,664 | C | T | false | 5_prime_UTR_variant | 887 | rs142924835 | 0.00011 | 0.006838 | 30.082 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000167740 | 0 | ENSG00000074755 | 643 | 0 | ENSG00000167740 | 5_prime_UTR_variant | ENSG00000167740 | 37 | ENSG00000074755 | 643 | 37 | ENSG00000167740 | 5_prime_UTR_variant | NA | NA | |
17 | 4,170,795 | C | T | false | missense_variant | 822 | rs200685853 | 0.000037 | 0.000314 | 2.1926 | missense_variant | missense_variant | ENSG00000185722 | 0 | ENSG00000185722 | 0 | 0 | ENSG00000185722 | missense_variant | ENSG00000185722 | 16,313 | ENSG00000185722 | 65 | 65 | ENSG00000185722 | missense_variant | NA | NA | |
17 | 4,195,452 | T | C | false | missense_variant | 838 | rs199871848 | 0.000474 | 0.006099 | 21.02 | missense_variant | missense_variant | ENSG00000185722 | 0 | ENSG00000185722 | 0 | 0 | ENSG00000185722 | missense_variant | ENSG00000185722 | 8,342 | ENSG00000185722 | 4,116 | 4,116 | ENSG00000185722 | missense_variant | NA | NA | |
17 | 4,380,392 | C | T | false | distal | 907 | rs192178359 | 0.000054 | 0.010146 | 36.771 | intergenic_variant | intergenic_variant | ENSG00000132388 | 13,716 | ENSG00000132388 | 13,763 | 13,716 | ENSG00000132388 | intergenic_variant | ENSG00000132388 | 13,716 | ENSG00000132388 | 13,763 | 13,716 | ENSG00000132388 | distal | NA | NA | |
17 | 4,380,728 | C | G | false | distal | 907 | rs377267846 | 0.000044 | 0.009924 | 36.67 | intergenic_variant | intergenic_variant | ENSG00000132388 | 14,052 | ENSG00000132388 | 14,099 | 14,052 | ENSG00000132388 | intergenic_variant | ENSG00000132388 | 14,052 | ENSG00000132388 | 14,099 | 14,052 | ENSG00000132388 | distal | NA | NA | |
17 | 4,419,929 | G | A | false | distal | 907 | rs189466401 | 0.000349 | 0.00944 | 21.836 | intergenic_variant | intergenic_variant | ENSG00000182557 | 14,010 | ENSG00000182557 | 14,027 | 14,010 | ENSG00000182557 | intergenic_variant | ENSG00000182557 | 14,010 | ENSG00000182557 | 14,027 | 14,010 | ENSG00000182557 | distal | NA | NA | |
17 | 4,453,147 | C | T | false | missense_variant | 820 | rs139509548 | 0.000101 | 0.000752 | 4.7141 | missense_variant | missense_variant | ENSG00000182557 | 0 | ENSG00000182557 | 0 | 0 | ENSG00000182557 | missense_variant | ENSG00000182557 | 19,206 | ENSG00000182557 | 6,542 | 6,542 | ENSG00000182557 | missense_variant | NA | NA | |
17 | 4,515,986 | A | C | false | distal | 851 | rs4499296 | 0.000047 | 0.34792 | 41.422 | intron_variant | dELS_flank | ENSG00000183018 | 2,673 | ENSG00000229782 | 16,311 | 2,673 | ENSG00000183018 | dELS_flank | ENSG00000183018 | 17,045 | ENSG00000229782 | 16,311 | 16,311 | ENSG00000229782 | distal | NA | NA | |
17 | 4,515,995 | G | C | false | distal | 851 | rs4405606 | 0.000047 | 0.34795 | 41.418 | intron_variant | dELS_flank | ENSG00000183018 | 2,682 | ENSG00000229782 | 16,320 | 2,682 | ENSG00000183018 | dELS_flank | ENSG00000183018 | 17,036 | ENSG00000229782 | 16,320 | 16,320 | ENSG00000229782 | distal | NA | NA | |
17 | 4,516,022 | C | T | false | distal | 851 | rs4616341 | 0.000046 | 0.34786 | 41.424 | intron_variant | dELS_flank | ENSG00000183018 | 2,709 | ENSG00000229782 | 16,347 | 2,709 | ENSG00000183018 | dELS_flank | ENSG00000183018 | 17,009 | ENSG00000229782 | 16,347 | 16,347 | ENSG00000229782 | distal | NA | NA | |
17 | 4,516,058 | A | G | false | distal | 851 | rs4520892 | 0.000046 | 0.3479 | 41.419 | intron_variant | dELS_flank | ENSG00000183018 | 2,745 | ENSG00000229782 | 16,383 | 2,745 | ENSG00000183018 | dELS_flank | ENSG00000183018 | 16,973 | ENSG00000229782 | 16,383 | 16,383 | ENSG00000229782 | distal | NA | NA | |
17 | 4,550,520 | C | T | false | tss_proximal | 902 | rs10852863 | 0.000159 | 0.18677 | 33.629 | intron_variant | dELS | ENSG00000132382 | 166 | ENSG00000132382 | 342 | 166 | ENSG00000132382 | tss_proximal | ENSG00000132382 | 458 | ENSG00000132382 | 342 | 342 | ENSG00000132382 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 4,554,068 | G | C | false | missense_variant | 829 | rs147142032 | 0.000106 | 0.001498 | 3.3772 | missense_variant | missense_variant | ENSG00000132382 | 0 | ENSG00000132382 | 0 | 0 | ENSG00000132382 | missense_variant | ENSG00000132382 | 843 | ENSG00000132382 | 1,289 | 843 | ENSG00000132382 | missense_variant | NA | NA | |
17 | 4,555,220 | G | T | false | missense_variant | 835 | rs117128211 | 0.000226 | 0.031182 | 20.435 | missense_variant | missense_variant | ENSG00000132382 | 0 | ENSG00000132382 | 0 | 0 | ENSG00000132382 | missense_variant | ENSG00000132382 | 163 | ENSG00000132382 | 137 | 137 | ENSG00000132382 | missense_variant | NA | NA | |
17 | 4,592,445 | G | A | false | missense_variant | 826 | rs12449695 | 0.003447 | 0.28865 | 31.577 | missense_variant | missense_variant | ENSG00000188176 | 0 | ENSG00000188176 | 2,620 | 0 | ENSG00000188176 | missense_variant | ENSG00000188176 | 89 | ENSG00000188176 | 2,620 | 89 | ENSG00000188176 | missense_variant | NA | NA | |
17 | 4,618,178 | C | A | true | distal | 840 | rs71368508 | 0.973745 | Eosino | 0.020973 | 21.549 | downstream_gene_variant | pELS | ENSG00000188176 | 9,858 | ENSG00000261863 | 527 | 527 | ENSG00000261863 | pELS | ENSG00000161905 | 21,703 | ENSG00000222429 | 1,673 | 1,673 | ENSG00000222429 | distal | NA | NA |
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