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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
19 | 3,207,648 | A | G | false | missense_variant | 1,006 | rs2288949 | 0.002828 | 0.036373 | 41.726 | missense_variant | missense_variant | ENSG00000125912 | 0 | ENSG00000125912 | 0 | 0 | ENSG00000125912 | missense_variant | ENSG00000125912 | 1,225 | ENSG00000125912 | 181 | 181 | ENSG00000125912 | missense_variant | NA | NA | |
19 | 3,208,352 | A | G | false | 3_prime_UTR_variant | 1,106 | rs312070 | 0.001953 | 0.45549 | 102.05 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000125912 | 0 | ENSG00000125912 | 604 | 0 | ENSG00000125912 | 3_prime_UTR_variant | ENSG00000125912 | 1,929 | ENSG00000125912 | 885 | 885 | ENSG00000125912 | 3_prime_UTR_variant | NA | NA | |
19 | 3,208,420 | T | C | false | 3_prime_UTR_variant | 1,106 | rs312071 | 0.001943 | 0.45548 | 102.05 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000125912 | 0 | ENSG00000125912 | 672 | 0 | ENSG00000125912 | 3_prime_UTR_variant | ENSG00000125912 | 1,997 | ENSG00000125912 | 953 | 953 | ENSG00000125912 | 3_prime_UTR_variant | NA | NA | |
19 | 3,229,226 | G | A | false | distal | 1,056 | rs4807425 | 0.000178 | 0.21941 | 61.789 | intron_variant | dELS_flank | ENSG00000161082 | 4,227 | ENSG00000161082 | 3,607 | 3,607 | ENSG00000161082 | dELS_flank | ENSG00000161082 | 4,521 | ENSG00000161082 | 3,740 | 3,740 | ENSG00000161082 | distal | NA | NA | |
19 | 3,364,306 | G | A | false | distal | 1,092 | rs113398558 | 0.000704 | 0.072836 | 14.008 | intron_variant | dELS | ENSG00000141905 | 2,242 | ENSG00000279599 | 7,088 | 2,242 | ENSG00000141905 | dELS | ENSG00000141905 | 2,242 | ENSG00000279599 | 7,088 | 2,242 | ENSG00000141905 | distal | NA | NA | |
19 | 3,375,574 | A | G | true | distal | 1,071 | rs60018147 | 1 | SHBG,eBMD | 0.12047 | 9.0065 | intron_variant | dELS | ENSG00000141905 | 6,137 | ENSG00000279599 | 3,971 | 3,971 | ENSG00000279599 | dELS | ENSG00000141905 | 8,990 | ENSG00000279599 | 4,178 | 4,178 | ENSG00000279599 | distal | NA | NA |
19 | 3,404,145 | C | A | true | distal | 1,072 | rs10410896 | 0.99939 | HbA1c | 0.1103 | 32.785 | intron_variant | dELS | ENSG00000141905 | 20,960 | ENSG00000141905 | 6,450 | 6,450 | ENSG00000141905 | dELS | ENSG00000141905 | 37,561 | ENSG00000141905 | 6,450 | 6,450 | ENSG00000141905 | distal | NA | NA |
19 | 3,522,599 | C | G | false | tss_proximal | 993 | rs566310762 | 0.000098 | 0.007943 | 8.0527 | intron_variant | pELS | ENSG00000105325 | 356 | ENSG00000105325 | 356 | 356 | ENSG00000105325 | tss_proximal | ENSG00000105325 | 390 | ENSG00000105325 | 384 | 384 | ENSG00000105325 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 3,528,393 | T | C | false | distal | 1,076 | rs28666054 | 0.004814 | 0.42605 | 82.626 | intron_variant | dELS | ENSG00000105325 | 578 | ENSG00000105325 | 578 | 578 | ENSG00000105325 | dELS | ENSG00000105325 | 5,402 | ENSG00000105325 | 2,292 | 2,292 | ENSG00000105325 | distal | NA | NA | |
19 | 3,556,941 | G | A | false | tss_proximal | 990 | rs75036876 | 0.000126 | 0.021893 | 9.3656 | intron_variant | pELS | ENSG00000161091 | 164 | ENSG00000161091 | 191 | 164 | ENSG00000161091 | tss_proximal | ENSG00000161091 | 621 | ENSG00000161091 | 621 | 621 | ENSG00000161091 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 3,590,831 | T | C | false | synonymous_variant | 1,060 | rs11878260 | 0.00024 | 0.024079 | 12.536 | synonymous_variant | synonymous_variant | ENSG00000179855 | 0 | ENSG00000006638 | 7,090 | 0 | ENSG00000179855 | synonymous_variant | ENSG00000179855 | 5,232 | ENSG00000006638 | 9,301 | 5,232 | ENSG00000179855 | synonymous_variant | NA | NA | |
19 | 3,617,908 | A | C | false | distal | 1,076 | rs11085028 | 0.001021 | 0.43109 | 102.18 | intron_variant | dELS | ENSG00000105298 | 966 | ENSG00000105298 | 966 | 966 | ENSG00000105298 | dELS | ENSG00000105298 | 1,257 | ENSG00000105298 | 1,215 | 1,215 | ENSG00000105298 | distal | NA | NA | |
19 | 3,698,159 | C | T | false | distal | 1,091 | rs111680060 | 0.000159 | 0.008089 | 6.7421 | intron_variant | dELS | ENSG00000186111 | 2,137 | ENSG00000186111 | 2,137 | 2,137 | ENSG00000186111 | dELS | ENSG00000186111 | 2,230 | ENSG00000186111 | 2,281 | 2,230 | ENSG00000186111 | distal | NA | NA | |
19 | 3,737,180 | T | C | false | distal | 1,043 | rs139724001 | 0.000092 | 0.008754 | 7.4128 | intron_variant | dELS_flank | ENSG00000105289 | 858 | ENSG00000105289 | 6,482 | 858 | ENSG00000105289 | dELS_flank | ENSG00000105289 | 8,803 | ENSG00000105289 | 6,482 | 6,482 | ENSG00000105289 | distal | NA | NA | |
19 | 3,739,405 | G | A | false | distal | 1,054 | rs55690752 | 0.000269 | 0.18747 | 30.817 | intron_variant | dELS_flank | ENSG00000105289 | 270 | ENSG00000105289 | 4,257 | 270 | ENSG00000105289 | dELS_flank | ENSG00000105289 | 11,028 | ENSG00000105289 | 4,257 | 4,257 | ENSG00000105289 | distal | NA | NA | |
19 | 3,739,440 | A | T | false | distal | 1,054 | rs56281248 | 0.000269 | 0.18739 | 30.834 | intron_variant | dELS_flank | ENSG00000105289 | 305 | ENSG00000105289 | 4,222 | 305 | ENSG00000105289 | dELS_flank | ENSG00000105289 | 11,063 | ENSG00000105289 | 4,222 | 4,222 | ENSG00000105289 | distal | NA | NA | |
19 | 3,771,588 | G | A | false | missense_variant | 1,035 | rs76076446 | 0.000342 | 0.022251 | 11.536 | missense_variant | missense_variant | ENSG00000173976 | 0 | ENSG00000267148 | 4,407 | 0 | ENSG00000173976 | missense_variant | ENSG00000173976 | 622 | ENSG00000267148 | 4,593 | 622 | ENSG00000173976 | missense_variant | NA | NA | |
19 | 3,779,016 | C | A | false | synonymous_variant | 1,063 | rs36072143 | 0.000181 | 0.041372 | 19.324 | synonymous_variant | synonymous_variant | ENSG00000007264 | 0 | ENSG00000267148 | 2,833 | 0 | ENSG00000007264 | synonymous_variant | ENSG00000007264 | 4,901 | ENSG00000267148 | 2,833 | 2,833 | ENSG00000267148 | synonymous_variant | NA | NA | |
19 | 3,781,164 | G | A | false | distal | 1,077 | rs11671452 | 0.000723 | 0.2001 | 28.035 | intron_variant | dELS | ENSG00000007264 | 442 | ENSG00000267148 | 4,981 | 442 | ENSG00000007264 | dELS | ENSG00000007264 | 2,753 | ENSG00000267148 | 4,981 | 2,753 | ENSG00000007264 | distal | NA | NA | |
19 | 3,781,166 | G | A | false | distal | 1,077 | rs11671453 | 0.000748 | 0.20013 | 28.044 | intron_variant | dELS | ENSG00000007264 | 440 | ENSG00000267148 | 4,983 | 440 | ENSG00000007264 | dELS | ENSG00000007264 | 2,751 | ENSG00000267148 | 4,983 | 2,751 | ENSG00000007264 | distal | NA | NA | |
19 | 3,802,900 | T | G | false | tss_proximal | 989 | rs8108820 | 0.00009 | 0.05608 | 11.184 | upstream_gene_variant | pELS_flank | ENSG00000007264 | 770 | ENSG00000007264 | 1,096 | 770 | ENSG00000007264 | tss_proximal | ENSG00000007264 | 770 | ENSG00000007264 | 1,096 | 770 | ENSG00000007264 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 3,817,896 | A | G | false | distal | 1,084 | rs1106643 | 0.000395 | 0.45181 | 73.024 | intron_variant | dELS | ENSG00000105278 | 1,050 | ENSG00000105278 | 3,530 | 1,050 | ENSG00000105278 | dELS | ENSG00000007264 | 15,766 | ENSG00000007264 | 16,092 | 15,766 | ENSG00000007264 | distal | NA | NA | |
19 | 3,819,277 | A | T | false | distal | 1,084 | rs2301840 | 0.000387 | 0.45884 | 75.437 | intron_variant | dELS | ENSG00000105278 | 41 | ENSG00000105278 | 2,149 | 41 | ENSG00000105278 | dELS | ENSG00000007264 | 17,147 | ENSG00000007264 | 17,473 | 17,147 | ENSG00000007264 | distal | NA | NA | |
19 | 3,831,451 | G | A | false | missense_variant | 1,037 | rs2240232 | 0.000499 | 0.39812 | 85.561 | missense_variant | missense_variant | ENSG00000105278 | 0 | ENSG00000105278 | 0 | 0 | ENSG00000105278 | missense_variant | ENSG00000105278 | 24,138 | ENSG00000007264 | 29,647 | 24,138 | ENSG00000105278 | missense_variant | NA | NA | |
19 | 3,831,527 | C | A | false | missense_variant | 1,037 | rs2240233 | 0.000511 | 0.39806 | 85.633 | missense_variant | missense_variant | ENSG00000105278 | 0 | ENSG00000105278 | 0 | 0 | ENSG00000105278 | missense_variant | ENSG00000105278 | 24,062 | ENSG00000007264 | 29,723 | 24,062 | ENSG00000105278 | missense_variant | NA | NA | |
19 | 3,831,767 | G | A | false | missense_variant | 1,037 | rs2240235 | 0.000658 | 0.39802 | 85.782 | missense_variant | missense_variant | ENSG00000105278 | 0 | ENSG00000105278 | 0 | 0 | ENSG00000105278 | missense_variant | ENSG00000105278 | 23,822 | ENSG00000007264 | 29,963 | 23,822 | ENSG00000105278 | missense_variant | NA | NA | |
19 | 3,925,033 | G | C | false | 3_prime_UTR_variant | 1,115 | rs117035326 | 0.000261 | 0.006691 | 14.017 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167654 | 0 | ENSG00000167654 | 35 | 0 | ENSG00000167654 | 3_prime_UTR_variant | ENSG00000077009 | 8,035 | ENSG00000167654 | 249 | 249 | ENSG00000167654 | 3_prime_UTR_variant | NA | NA | |
19 | 3,925,463 | T | G | false | 3_prime_UTR_variant | 1,115 | rs183948049 | 0.00029 | 0.006644 | 13.976 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167654 | 0 | ENSG00000167654 | 0 | 0 | ENSG00000167654 | 3_prime_UTR_variant | ENSG00000077009 | 7,605 | ENSG00000167654 | 179 | 179 | ENSG00000167654 | 3_prime_UTR_variant | NA | NA | |
19 | 3,925,782 | G | A | false | 3_prime_UTR_variant | 1,115 | rs143684746 | 0.000452 | 0.009702 | 11.653 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167654 | 0 | ENSG00000167654 | 60 | 0 | ENSG00000167654 | 3_prime_UTR_variant | ENSG00000077009 | 7,286 | ENSG00000167654 | 498 | 498 | ENSG00000167654 | 3_prime_UTR_variant | NA | NA | |
19 | 3,925,785 | T | A | false | 3_prime_UTR_variant | 1,115 | rs192536222 | 0.00096 | 0.008548 | 10.098 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167654 | 0 | ENSG00000167654 | 63 | 0 | ENSG00000167654 | 3_prime_UTR_variant | ENSG00000077009 | 7,283 | ENSG00000167654 | 501 | 501 | ENSG00000167654 | 3_prime_UTR_variant | NA | NA | |
19 | 3,960,022 | C | T | false | missense_variant | 1,034 | rs2304193 | 0.005425 | 0.17181 | 28.087 | missense_variant | missense_variant | ENSG00000167657 | 0 | ENSG00000167657 | 36 | 0 | ENSG00000167657 | missense_variant | ENSG00000167657 | 1,136 | ENSG00000283928 | 1,489 | 1,136 | ENSG00000167657 | missense_variant | NA | NA | |
19 | 3,982,969 | G | A | false | synonymous_variant | 1,059 | rs2230561 | 0.002995 | 0.097571 | 81.533 | synonymous_variant | synonymous_variant | ENSG00000167658 | 0 | ENSG00000167658 | 284 | 0 | ENSG00000167658 | synonymous_variant | ENSG00000167658 | 2,493 | ENSG00000206775 | 396 | 396 | ENSG00000206775 | synonymous_variant | NA | NA | |
19 | 3,994,839 | C | T | false | distal | 1,051 | rs558247690 | 0.000304 | 0.023293 | 18.572 | intergenic_variant | dELS_flank | ENSG00000167658 | 9,375 | ENSG00000167658 | 9,375 | 9,375 | ENSG00000167658 | dELS_flank | ENSG00000167658 | 9,375 | ENSG00000167658 | 9,375 | 9,375 | ENSG00000167658 | distal | NA | NA | |
19 | 4,010,038 | A | G | false | distal | 1,091 | rs189434310 | 0.000386 | 0.007585 | 15.751 | intron_variant | dELS | ENSG00000105229 | 2,250 | ENSG00000105229 | 2,250 | 2,250 | ENSG00000105229 | dELS | ENSG00000105229 | 2,301 | ENSG00000105229 | 2,279 | 2,279 | ENSG00000105229 | distal | NA | NA | |
19 | 4,030,777 | A | G | false | distal | 1,042 | rs8109122 | 0.003345 | 0.06586 | 90.643 | intron_variant | dELS_flank | ENSG00000105229 | 1,740 | ENSG00000105229 | 1,962 | 1,740 | ENSG00000105229 | dELS_flank | ENSG00000105229 | 23,040 | ENSG00000105229 | 2,315 | 2,315 | ENSG00000105229 | distal | NA | NA | |
19 | 4,152,562 | A | C | false | distal | 996 | rs74674350 | 0.003688 | 0.079734 | 34.49 | intergenic_variant | pELS_flank | ENSG00000060566 | 1,068 | ENSG00000060566 | 11,880 | 1,068 | ENSG00000060566 | pELS_flank | ENSG00000060566 | 1,068 | ENSG00000060566 | 11,880 | 1,068 | ENSG00000060566 | distal | NA | NA | |
19 | 4,198,157 | C | T | false | synonymous_variant | 1,058 | rs1963331 | 0.000121 | 0.42407 | 65.322 | synonymous_variant | synonymous_variant | ENSG00000089847 | 0 | ENSG00000089847 | 253 | 0 | ENSG00000089847 | synonymous_variant | ENSG00000089847 | 16 | ENSG00000089847 | 253 | 16 | ENSG00000089847 | synonymous_variant | NA | NA | |
19 | 4,292,901 | C | G | false | splicing | 1,132 | rs55767880 | 0.000308 | 0.19644 | 26.995 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000167664 | 15 | ENSG00000105251 | 2,247 | 15 | ENSG00000167664 | splice_polypyrimidine_tract_variant | ENSG00000167664 | 9,483 | ENSG00000105251 | 4,708 | 4,708 | ENSG00000105251 | splicing | NA | splicing:b1 | |
19 | 4,294,810 | G | A | false | missense_variant | 1,023 | rs78320454 | 0.00012 | 0.15756 | 37.745 | missense_variant | missense_variant | ENSG00000167664 | 0 | ENSG00000105251 | 4,156 | 0 | ENSG00000167664 | missense_variant | ENSG00000167664 | 7,574 | ENSG00000105251 | 6,617 | 6,617 | ENSG00000105251 | missense_variant | NA | NA | |
19 | 4,325,436 | G | A | false | synonymous_variant | 1,061 | rs1138253 | 0.000448 | 0.44545 | 42.912 | synonymous_variant | synonymous_variant | ENSG00000178078 | 0 | ENSG00000178078 | 0 | 0 | ENSG00000178078 | synonymous_variant | ENSG00000178078 | 1,515 | ENSG00000178078 | 1,933 | 1,515 | ENSG00000178078 | synonymous_variant | NA | NA | |
19 | 4,338,264 | G | A | false | missense_variant | 1,032 | rs62129337 | 0.00299 | 0.035231 | 20.452 | missense_variant | missense_variant | ENSG00000178078 | 387 | ENSG00000178078 | 0 | 0 | ENSG00000178078 | missense_variant | ENSG00000178078 | 544 | ENSG00000269425 | 1,312 | 544 | ENSG00000178078 | missense_variant | NA | NA | |
19 | 4,351,601 | G | A | false | distal | 1,076 | rs73539222 | 0.006466 | 0.43532 | 113.04 | intron_variant | dELS | ENSG00000008382 | 1,295 | ENSG00000008382 | 1,295 | 1,295 | ENSG00000008382 | dELS | ENSG00000008382 | 1,388 | ENSG00000269807 | 2,455 | 1,388 | ENSG00000008382 | distal | NA | NA | |
19 | 4,354,551 | T | C | false | missense_variant | 1,017 | rs147586556 | 0.000157 | 0.022566 | 16.6 | missense_variant | missense_variant | ENSG00000008382 | 0 | ENSG00000008382 | 130 | 0 | ENSG00000008382 | missense_variant | ENSG00000008382 | 397 | ENSG00000269807 | 493 | 397 | ENSG00000008382 | missense_variant | NA | NA | |
19 | 4,430,074 | A | C | false | non_coding_transcript_exon_variant | 981 | rs78744466 | 0.003019 | 0.040891 | 20.823 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000167670 | 285 | ENSG00000267255 | 0 | 0 | ENSG00000267255 | non_coding_transcript_exon_variant | ENSG00000167670 | 12,179 | ENSG00000267255 | 859 | 859 | ENSG00000267255 | non_coding_transcript_exon_variant | NA | NA | |
19 | 4,445,076 | A | G | false | 3_prime_UTR_variant | 1,106 | rs2705 | 0.009173 | 0.45507 | 132.83 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167671 | 0 | ENSG00000167671 | 0 | 0 | ENSG00000167671 | 3_prime_UTR_variant | ENSG00000167670 | 2,821 | ENSG00000266437 | 901 | 901 | ENSG00000266437 | 3_prime_UTR_variant | NA | NA | |
19 | 4,445,159 | A | G | false | 3_prime_UTR_variant | 1,106 | rs243387 | 0.008905 | 0.45514 | 132.77 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167671 | 0 | ENSG00000167671 | 0 | 0 | ENSG00000167671 | 3_prime_UTR_variant | ENSG00000167670 | 2,904 | ENSG00000266437 | 818 | 818 | ENSG00000266437 | 3_prime_UTR_variant | NA | NA | |
19 | 4,474,728 | C | A | true | tss_proximal | 986 | rs76608582 | 0.95789 | Smoking_Ever_Never | 0.047655 | 21.068 | intron_variant | dELS | ENSG00000167674 | 163 | ENSG00000167674 | 546 | 163 | ENSG00000167674 | tss_proximal | ENSG00000167674 | 163 | ENSG00000167674 | 620 | 163 | ENSG00000167674 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
19 | 4,502,189 | T | C | true | 3_prime_UTR_variant | 1,104 | rs8887 | 1 | MCH,MCHC,MCV,RBC | 0.42688 | 85.146 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167674 | 0 | ENSG00000167674 | 0 | 0 | ENSG00000167674 | 3_prime_UTR_variant | ENSG00000167674 | 2,559 | ENSG00000214456 | 23,659 | 2,559 | ENSG00000167674 | 3_prime_UTR_variant | NA | NA |
19 | 4,513,547 | A | G | false | missense_variant | 1,004 | rs4807597 | 0.000474 | 0.05188 | 17.434 | missense_variant | missense_variant | ENSG00000167676 | 0 | ENSG00000214456 | 10,361 | 0 | ENSG00000167676 | missense_variant | ENSG00000167676 | 4,917 | ENSG00000214456 | 12,301 | 4,917 | ENSG00000167676 | missense_variant | NA | NA | |
19 | 4,558,419 | C | G | false | synonymous_variant | 1,061 | rs2304213 | 0.002891 | 0.44549 | 33.34 | synonymous_variant | synonymous_variant | ENSG00000167680 | 0 | ENSG00000167680 | 0 | 0 | ENSG00000167680 | synonymous_variant | ENSG00000167680 | 37 | ENSG00000167680 | 69 | 37 | ENSG00000167680 | synonymous_variant | NA | NA | |
19 | 4,564,665 | C | T | false | distal | 1,043 | rs183470976 | 0.003163 | 0.006875 | 16.035 | intron_variant | dELS_flank | ENSG00000167680 | 4,980 | ENSG00000167680 | 6,175 | 4,980 | ENSG00000167680 | dELS_flank | ENSG00000167680 | 4,980 | ENSG00000167680 | 6,175 | 4,980 | ENSG00000167680 | distal | NA | NA | |
19 | 4,591,424 | C | T | false | distal | 1,085 | rs4806990 | 0.000461 | 0.44173 | 56.916 | intergenic_variant | dELS | ENSG00000167680 | 9,647 | ENSG00000267408 | 29,769 | 9,647 | ENSG00000167680 | dELS | ENSG00000167680 | 9,647 | ENSG00000267408 | 29,769 | 9,647 | ENSG00000167680 | distal | NA | NA | |
19 | 4,647,219 | T | C | false | distal | 1,090 | rs10417957 | 0.002388 | 0.23941 | 55.901 | intron_variant | dELS | ENSG00000185361 | 4,647 | ENSG00000185361 | 4,736 | 4,647 | ENSG00000185361 | dELS | ENSG00000185361 | 7,201 | ENSG00000185361 | 7,681 | 7,201 | ENSG00000185361 | distal | NA | NA | |
19 | 4,689,182 | C | T | false | tss_proximal | 1,095 | rs116846336 | 0.000482 | 0.007277 | 14.37 | intron_variant | dELS_flank | ENSG00000142002 | 289 | ENSG00000142002 | 289 | 289 | ENSG00000142002 | tss_proximal | ENSG00000074842 | 18,819 | ENSG00000142002 | 378 | 378 | ENSG00000142002 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 4,691,185 | C | T | false | tss_proximal | 1,095 | rs62113866 | 0.000111 | 0.007704 | 12.834 | intron_variant | pELS | ENSG00000142002 | 227 | ENSG00000142002 | 227 | 227 | ENSG00000142002 | tss_proximal | ENSG00000074842 | 20,822 | ENSG00000142002 | 278 | 278 | ENSG00000142002 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 4,701,715 | C | T | false | distal | 1,082 | rs75029446 | 0.00031 | 0.019902 | 54.518 | intron_variant | dELS | ENSG00000142002 | 311 | ENSG00000142002 | 311 | 311 | ENSG00000142002 | dELS | ENSG00000142002 | 12,590 | ENSG00000142002 | 2,435 | 2,435 | ENSG00000142002 | distal | NA | NA | |
19 | 4,714,263 | G | A | false | missense_variant | 1,005 | rs147966989 | 0.002789 | 0.019428 | 13.836 | missense_variant | missense_variant | ENSG00000142002 | 0 | ENSG00000142002 | 0 | 0 | ENSG00000142002 | missense_variant | ENSG00000142002 | 42 | ENSG00000142002 | 42 | 42 | ENSG00000142002 | missense_variant | NA | NA | |
19 | 4,719,431 | G | A | false | distal | 1,038 | rs2109069 | 0.000761 | 0.32483 | 47.032 | intron_variant | dELS_flank | ENSG00000142002 | 419 | ENSG00000142002 | 106 | 106 | ENSG00000142002 | dELS_flank | ENSG00000142002 | 3,346 | ENSG00000142002 | 1,542 | 1,542 | ENSG00000142002 | distal | NA | NA | |
19 | 4,719,473 | G | C | false | distal | 1,038 | rs2109070 | 0.00072 | 0.32484 | 47.03 | intron_variant | dELS_flank | ENSG00000142002 | 377 | ENSG00000142002 | 144 | 144 | ENSG00000142002 | dELS_flank | ENSG00000142002 | 3,304 | ENSG00000142002 | 1,584 | 1,584 | ENSG00000142002 | distal | NA | NA | |
19 | 4,733,155 | C | T | false | distal | 1,121 | rs12463038 | 0.000478 | 0.0937 | 19.567 | intergenic_variant | CA-H3K4me3_flank | ENSG00000142002 | 9,311 | ENSG00000142002 | 8,481 | 8,481 | ENSG00000142002 | CA-H3K4me3_flank | ENSG00000142002 | 9,311 | ENSG00000142002 | 8,481 | 8,481 | ENSG00000142002 | distal | NA | NA | |
19 | 4,735,886 | C | T | false | distal | 1,133 | rs35335727 | 0.001679 | 0.23233 | 45.951 | intergenic_variant | intergenic_variant | ENSG00000142002 | 12,042 | ENSG00000142002 | 11,212 | 11,212 | ENSG00000142002 | intergenic_variant | ENSG00000142002 | 12,042 | ENSG00000142002 | 11,212 | 11,212 | ENSG00000142002 | distal | NA | NA | |
19 | 4,789,925 | A | G | false | distal | 998 | rs7257281 | 0.000868 | 0.31184 | 87.461 | intron_variant | pELS_flank | ENSG00000141965 | 1,808 | ENSG00000268536 | 1,272 | 1,272 | ENSG00000268536 | pELS_flank | ENSG00000141965 | 1,808 | ENSG00000268536 | 1,392 | 1,392 | ENSG00000268536 | distal | NA | NA | |
19 | 4,859,280 | G | T | false | tss_proximal | 992 | rs188623920 | 0.000761 | 0.002846 | 4.5531 | intron_variant | TF | ENSG00000105355 | 309 | ENSG00000267484 | 20,372 | 309 | ENSG00000105355 | tss_proximal | ENSG00000105355 | 355 | ENSG00000267484 | 20,947 | 355 | ENSG00000105355 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 5,124,237 | G | A | false | distal | 1,070 | rs2620849 | 0.001029 | 0.31675 | 157.49 | intron_variant | dELS | ENSG00000127663 | 4,384 | ENSG00000127663 | 4,384 | 4,384 | ENSG00000127663 | dELS | ENSG00000127663 | 41,784 | ENSG00000127663 | 11,298 | 11,298 | ENSG00000127663 | distal | NA | NA | |
19 | 5,261,495 | G | A | false | distal | 1,070 | rs2238640 | 0.000147 | 0.31558 | 36.438 | intron_variant | dELS | ENSG00000105426 | 672 | ENSG00000105426 | 3,367 | 672 | ENSG00000105426 | dELS | ENSG00000105426 | 24,667 | ENSG00000239524 | 16,238 | 16,238 | ENSG00000239524 | distal | NA | NA | |
19 | 5,293,572 | C | A | false | tss_proximal | 986 | rs55763631 | 0.001133 | 0.048324 | 16.949 | intron_variant | pELS | ENSG00000105426 | 319 | ENSG00000274447 | 674 | 319 | ENSG00000105426 | tss_proximal | ENSG00000105426 | 319 | ENSG00000274447 | 674 | 319 | ENSG00000105426 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 5,293,643 | G | A | false | tss_proximal | 986 | rs77540740 | 0.00011 | 0.048774 | 21.614 | intron_variant | pELS | ENSG00000105426 | 390 | ENSG00000274447 | 603 | 390 | ENSG00000105426 | tss_proximal | ENSG00000105426 | 390 | ENSG00000274447 | 603 | 390 | ENSG00000105426 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 5,296,569 | G | A | false | distal | 1,079 | rs7254738 | 0.000296 | 0.29378 | 60.318 | intron_variant | dELS | ENSG00000105426 | 3,316 | ENSG00000274447 | 1,872 | 1,872 | ENSG00000274447 | dELS | ENSG00000105426 | 3,316 | ENSG00000274447 | 2,321 | 2,321 | ENSG00000274447 | distal | NA | NA | |
19 | 5,571,534 | C | T | false | distal | 1,080 | rs146473646 | 0.000626 | 0.014138 | 162.94 | intron_variant | dELS | ENSG00000223573 | 3,499 | ENSG00000233270 | 5,125 | 3,499 | ENSG00000223573 | dELS | ENSG00000223573 | 3,499 | ENSG00000233270 | 5,403 | 3,499 | ENSG00000223573 | distal | NA | NA | |
19 | 5,635,300 | C | T | false | distal | 1,088 | rs2485274 | 0.000099 | 0.067406 | 59.944 | intron_variant | dELS | ENSG00000160633 | 6,293 | ENSG00000160633 | 6,293 | 6,293 | ENSG00000160633 | dELS | ENSG00000130254 | 11,253 | ENSG00000160633 | 6,550 | 6,550 | ENSG00000160633 | distal | NA | NA | |
19 | 5,682,904 | A | G | false | distal | 997 | rs3097895 | 0.000512 | 0.3034 | 77.469 | intron_variant | pELS_flank | ENSG00000167733 | 1,117 | ENSG00000167733 | 1,632 | 1,117 | ENSG00000167733 | pELS_flank | ENSG00000167733 | 1,128 | ENSG00000167733 | 1,734 | 1,128 | ENSG00000167733 | distal | NA | NA | |
19 | 5,765,409 | C | T | false | distal | 1,123 | rs2446199 | 0.002891 | 0.03928 | 37.011 | intron_variant | TF | ENSG00000174898 | 693 | ENSG00000174898 | 693 | 693 | ENSG00000174898 | TF | ENSG00000212123 | 19,189 | ENSG00000174898 | 9,832 | 9,832 | ENSG00000174898 | distal | NA | NA | |
19 | 5,785,438 | C | T | false | missense_variant | 1,021 | rs12977803 | 0.000107 | 0.015865 | 21.088 | missense_variant | missense_variant | ENSG00000141994 | 0 | ENSG00000141994 | 0 | 0 | ENSG00000141994 | missense_variant | ENSG00000267157 | 180 | ENSG00000141994 | 560 | 180 | ENSG00000267157 | missense_variant | NA | NA | |
19 | 5,789,342 | G | C | false | missense_variant | 1,002 | rs202034781 | 0.000048 | 0.006869 | 19.175 | missense_variant | missense_variant | ENSG00000141994 | 0 | ENSG00000141994 | 0 | 0 | ENSG00000141994 | missense_variant | ENSG00000141994 | 922 | ENSG00000141994 | 1,165 | 922 | ENSG00000141994 | missense_variant | NA | NA | |
19 | 5,831,661 | G | C | false | missense_variant | 1,031 | rs61147939 | 0.000079 | 0.071983 | 47.297 | missense_variant | missense_variant | ENSG00000156413 | 0 | ENSG00000289543 | 2,371 | 0 | ENSG00000156413 | missense_variant | ENSG00000156413 | 905 | ENSG00000289543 | 3,325 | 905 | ENSG00000156413 | missense_variant | NA | NA | |
19 | 5,849,655 | C | T | false | tss_proximal | 990 | rs28742587 | 0.000265 | 0.022439 | 34.648 | intron_variant | pELS_flank | ENSG00000171124 | 749 | ENSG00000171124 | 109 | 109 | ENSG00000171124 | tss_proximal | ENSG00000171124 | 749 | ENSG00000171124 | 663 | 663 | ENSG00000171124 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 5,874,848 | G | A | false | distal | 1,084 | rs1678856 | 0.000197 | 0.45959 | 111.3 | intergenic_variant | dELS | ENSG00000130383 | 4,307 | ENSG00000267740 | 4,224 | 4,224 | ENSG00000267740 | dELS | ENSG00000130383 | 4,307 | ENSG00000174886 | 21,832 | 4,307 | ENSG00000130383 | distal | NA | NA | |
19 | 5,876,569 | G | A | false | distal | 1,084 | rs1612621 | 0.0002 | 0.45929 | 111.67 | intergenic_variant | dELS | ENSG00000130383 | 6,028 | ENSG00000267740 | 5,945 | 5,945 | ENSG00000267740 | dELS | ENSG00000130383 | 6,028 | ENSG00000174886 | 20,111 | 6,028 | ENSG00000130383 | distal | NA | NA | |
19 | 5,876,818 | G | A | false | distal | 1,084 | rs1614492 | 0.000278 | 0.45387 | 100.83 | intergenic_variant | dELS | ENSG00000130383 | 6,277 | ENSG00000267740 | 6,194 | 6,194 | ENSG00000267740 | dELS | ENSG00000130383 | 6,277 | ENSG00000174886 | 19,862 | 6,277 | ENSG00000130383 | distal | NA | NA | |
19 | 5,908,957 | C | T | false | missense_variant | 1,013 | rs137868133 | 0.000047 | 0.002988 | 17.026 | missense_variant | missense_variant | ENSG00000187650 | 0 | ENSG00000267571 | 2,620 | 0 | ENSG00000187650 | missense_variant | ENSG00000105519 | 3,381 | ENSG00000267314 | 4,115 | 3,381 | ENSG00000105519 | missense_variant | NA | NA | |
19 | 5,914,459 | G | A | false | missense_variant | 1,005 | rs143117009 | 0.000109 | 0.01776 | 29.174 | missense_variant | missense_variant | ENSG00000105519 | 0 | ENSG00000267314 | 0 | 0 | ENSG00000105519 | missense_variant | ENSG00000105519 | 185 | ENSG00000105519 | 186 | 185 | ENSG00000105519 | missense_variant | NA | NA | |
19 | 5,995,197 | G | A | false | distal | 1,082 | rs142854181 | 0.000049 | 0.014939 | 23.441 | intron_variant | dELS | ENSG00000087903 | 246 | ENSG00000087903 | 246 | 246 | ENSG00000087903 | dELS | ENSG00000087903 | 13,028 | ENSG00000087903 | 2,175 | 2,175 | ENSG00000087903 | distal | NA | NA | |
19 | 6,144,182 | G | T | false | distal | 1,123 | rs112347922 | 0.000329 | 0.029228 | 172.5 | intron_variant | TF | ENSG00000130377 | 2,571 | ENSG00000130377 | 2,571 | 2,571 | ENSG00000130377 | TF | ENSG00000130377 | 8,498 | ENSG00000130377 | 8,480 | 8,480 | ENSG00000130377 | distal | NA | NA | |
19 | 6,144,347 | A | G | false | distal | 1,123 | rs76981848 | 0.000333 | 0.029227 | 172.52 | intron_variant | TF | ENSG00000130377 | 2,736 | ENSG00000130377 | 2,736 | 2,736 | ENSG00000130377 | TF | ENSG00000130377 | 8,663 | ENSG00000130377 | 8,645 | 8,645 | ENSG00000130377 | distal | NA | NA | |
19 | 6,201,465 | C | T | false | distal | 1,050 | rs544903706 | 0.000067 | 0.003478 | 18.356 | intron_variant | dELS_flank | ENSG00000087903 | 1,935 | ENSG00000087903 | 1,892 | 1,892 | ENSG00000087903 | dELS_flank | ENSG00000087903 | 1,935 | ENSG00000087903 | 1,892 | 1,892 | ENSG00000087903 | distal | NA | NA | |
19 | 6,213,332 | G | A | false | splicing | 1,119 | rs374460061 | 0.000054 | 0.000018 | 1.0072 | splice_donor_5th_base_variant | splice_donor_5th_base_variant | ENSG00000130382 | 4 | ENSG00000130382 | 4 | 4 | ENSG00000130382 | splice_donor_5th_base_variant | ENSG00000087903 | 13,802 | ENSG00000130382 | 1,855 | 1,855 | ENSG00000130382 | splicing | NA | splicing:b0 | |
19 | 6,258,063 | G | A | true | distal | 1,116 | rs34263337 | 0.962935 | Mono | 0.14257 | 25.433 | intron_variant | pELS | ENSG00000130382 | 4,164 | ENSG00000267563 | 1,093 | 1,093 | ENSG00000267563 | pELS | ENSG00000130382 | 21,911 | ENSG00000267563 | 1,093 | 1,093 | ENSG00000267563 | distal | NA | NA |
19 | 6,333,279 | T | C | false | tss_proximal | 983 | rs2335192 | 0.000061 | 0.30933 | 41.672 | intron_variant | PLS_flank | ENSG00000167769 | 179 | ENSG00000269802 | 10,481 | 179 | ENSG00000167769 | tss_proximal | ENSG00000167769 | 332 | ENSG00000125656 | 28,285 | 332 | ENSG00000167769 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 6,356,918 | C | T | false | distal | 1,053 | rs80100254 | 0.000226 | 0.017836 | 84.072 | intron_variant | dELS_flank | ENSG00000125656 | 4,612 | ENSG00000269802 | 3,244 | 3,244 | ENSG00000269802 | dELS_flank | ENSG00000125656 | 4,612 | ENSG00000125656 | 4,646 | 4,612 | ENSG00000125656 | distal | NA | NA | |
19 | 6,433,618 | G | C | false | missense_variant | 1,017 | rs117420388 | 0.000067 | 0.021495 | 69.003 | missense_variant | missense_variant | ENSG00000181240 | 0 | ENSG00000181240 | 0 | 0 | ENSG00000181240 | missense_variant | ENSG00000181240 | 144 | ENSG00000181240 | 143 | 143 | ENSG00000181240 | missense_variant | NA | NA | |
19 | 6,467,899 | T | C | false | missense_variant | 1,032 | rs35173535 | 0.000193 | 0.029716 | 30.168 | missense_variant | missense_variant | ENSG00000205744 | 0 | ENSG00000205744 | 0 | 0 | ENSG00000205744 | missense_variant | ENSG00000125648 | 2,695 | ENSG00000275234 | 1,565 | 1,565 | ENSG00000275234 | missense_variant | NA | NA | |
19 | 6,468,320 | T | C | true | missense_variant | 1,003 | rs62107586 | 0.954785 | Mono | 0.44975 | 45.554 | missense_variant | missense_variant | ENSG00000205744 | 0 | ENSG00000205744 | 0 | 0 | ENSG00000205744 | missense_variant | ENSG00000125648 | 3,116 | ENSG00000275234 | 1,144 | 1,144 | ENSG00000275234 | missense_variant | NA | NA |
19 | 6,481,530 | G | A | false | tss_proximal | 991 | rs3852882 | 0.000078 | 0.003772 | 13.385 | intron_variant | PLS_flank | ENSG00000205744 | 119 | ENSG00000205744 | 148 | 119 | ENSG00000205744 | tss_proximal | ENSG00000205744 | 222 | ENSG00000205744 | 243 | 222 | ENSG00000205744 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 6,494,464 | A | T | false | 3_prime_UTR_variant | 1,115 | rs73920690 | 0.000061 | 0.007637 | 6.7835 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000104833 | 0 | ENSG00000268203 | 0 | 0 | ENSG00000104833 | 3_prime_UTR_variant | ENSG00000104833 | 7,322 | ENSG00000268203 | 143 | 143 | ENSG00000268203 | 3_prime_UTR_variant | NA | NA | |
19 | 6,531,978 | G | A | false | tss_proximal | 992 | rs186470493 | 0.000077 | 0.006386 | 8.7762 | intron_variant | pELS_flank | ENSG00000125657 | 674 | ENSG00000268742 | 20,379 | 674 | ENSG00000125657 | tss_proximal | ENSG00000125657 | 951 | ENSG00000268742 | 22,515 | 951 | ENSG00000125657 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 6,532,025 | G | T | false | tss_proximal | 992 | rs183116138 | 0.000047 | 0.004454 | 8.5569 | intron_variant | pELS_flank | ENSG00000125657 | 721 | ENSG00000268742 | 20,332 | 721 | ENSG00000125657 | tss_proximal | ENSG00000125657 | 998 | ENSG00000268742 | 22,468 | 998 | ENSG00000125657 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 6,571,780 | G | A | false | distal | 999 | rs4807879 | 0.000229 | 0.22366 | 30.931 | intergenic_variant | pELS_flank | ENSG00000125726 | 11,402 | ENSG00000199223 | 1,175 | 1,175 | ENSG00000199223 | pELS_flank | ENSG00000125726 | 19,358 | ENSG00000199223 | 1,276 | 1,276 | ENSG00000199223 | distal | NA | NA | |
19 | 6,575,017 | C | T | false | distal | 1,116 | rs111269102 | 0.000338 | 0.14977 | 47.35 | intergenic_variant | pELS | ENSG00000125726 | 8,165 | ENSG00000199223 | 1,959 | 1,959 | ENSG00000199223 | pELS | ENSG00000125726 | 16,121 | ENSG00000199223 | 1,959 | 1,959 | ENSG00000199223 | distal | NA | NA | |
19 | 6,579,778 | G | A | false | distal | 1,092 | rs12977027 | 0.000064 | 0.078044 | 36.601 | intergenic_variant | dELS | ENSG00000125726 | 3,404 | ENSG00000199223 | 6,720 | 3,404 | ENSG00000125726 | dELS | ENSG00000125726 | 11,360 | ENSG00000199223 | 6,720 | 6,720 | ENSG00000199223 | distal | NA | NA | |
19 | 6,595,768 | G | A | false | distal | 1,040 | rs168259 | 0.000651 | 0.13334 | 42.427 | intron_variant | dELS_flank | ENSG00000125726 | 3,192 | ENSG00000268785 | 1,712 | 1,712 | ENSG00000268785 | dELS_flank | ENSG00000125726 | 4,617 | ENSG00000268785 | 2,438 | 2,438 | ENSG00000268785 | distal | NA | NA |
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