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 | 41,439,999 | G | C | false | non_coding_transcript_exon_variant | 978 | rs13344563 | 0.007272 | 0.39447 | 160.14 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000105341 | 62 | ENSG00000105341 | 0 | 0 | ENSG00000105341 | non_coding_transcript_exon_variant | ENSG00000105341 | 62 | ENSG00000105341 | 102 | 62 | ENSG00000105341 | non_coding_transcript_exon_variant | NA | NA | |
19 | 41,536,409 | A | G | false | non_coding_transcript_exon_variant | 982 | rs7252861 | 0.000409 | 0.036959 | 154.89 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000007129 | 13,108 | ENSG00000270164 | 0 | 0 | ENSG00000270164 | non_coding_transcript_exon_variant | ENSG00000007129 | 13,108 | ENSG00000270164 | 841 | 841 | ENSG00000270164 | non_coding_transcript_exon_variant | NA | NA | |
19 | 41,570,715 | C | T | false | distal | 1,090 | rs1860255 | 0.000184 | 0.24722 | 112.73 | intron_variant | dELS | ENSG00000007129 | 5,450 | ENSG00000007129 | 5,106 | 5,106 | ENSG00000007129 | dELS | ENSG00000007129 | 5,450 | ENSG00000007129 | 5,463 | 5,450 | ENSG00000007129 | distal | NA | NA | |
19 | 41,625,940 | G | C | false | missense_variant | 1,010 | rs1126454 | 0.000247 | 0.47679 | 75.702 | missense_variant | missense_variant | ENSG00000105352 | 0 | ENSG00000105352 | 0 | 0 | ENSG00000105352 | missense_variant | ENSG00000105352 | 1,133 | ENSG00000105352 | 1,133 | 1,133 | ENSG00000105352 | missense_variant | NA | NA | |
19 | 41,636,832 | T | A | false | distal | 1,134 | rs34830510 | 0.000084 | 0.21586 | 81.081 | intergenic_variant | intergenic_variant | ENSG00000105352 | 9,757 | ENSG00000268997 | 1,736 | 1,736 | ENSG00000268997 | intergenic_variant | ENSG00000105352 | 9,757 | ENSG00000268997 | 2,066 | 2,066 | ENSG00000268997 | distal | NA | NA | |
19 | 41,636,961 | G | A | false | distal | 1,134 | rs34783321 | 0.000084 | 0.21647 | 80.71 | intergenic_variant | intergenic_variant | ENSG00000105352 | 9,886 | ENSG00000268997 | 1,607 | 1,607 | ENSG00000268997 | intergenic_variant | ENSG00000105352 | 9,886 | ENSG00000268997 | 1,937 | 1,937 | ENSG00000268997 | distal | NA | NA | |
19 | 41,682,670 | A | G | false | distal | 1,069 | rs34596329 | 0.000084 | 0.44902 | 136.13 | intron_variant | dELS | ENSG00000007306 | 1,114 | ENSG00000007306 | 1,374 | 1,114 | ENSG00000007306 | dELS | ENSG00000007306 | 5,496 | ENSG00000007306 | 24,305 | 5,496 | ENSG00000007306 | distal | NA | NA | |
19 | 41,709,751 | G | A | false | missense_variant | 1,032 | rs140477498 | 0.00009 | 0.032048 | 119.43 | missense_variant | missense_variant | ENSG00000105388 | 0 | ENSG00000105388 | 0 | 0 | ENSG00000105388 | missense_variant | ENSG00000105388 | 34 | ENSG00000105388 | 1,124 | 34 | ENSG00000105388 | missense_variant | NA | NA | |
19 | 41,709,853 | A | G | false | missense_variant | 1,034 | rs12971352 | 0.000182 | 0.17408 | 82.33 | missense_variant | missense_variant | ENSG00000105388 | 0 | ENSG00000105388 | 0 | 0 | ENSG00000105388 | missense_variant | ENSG00000105388 | 60 | ENSG00000105388 | 1,226 | 60 | ENSG00000105388 | missense_variant | NA | NA | |
19 | 41,709,863 | T | C | false | missense_variant | 1,034 | rs28683503 | 0.000189 | 0.17412 | 82.374 | missense_variant | missense_variant | ENSG00000105388 | 0 | ENSG00000105388 | 0 | 0 | ENSG00000105388 | missense_variant | ENSG00000105388 | 50 | ENSG00000105388 | 1,236 | 50 | ENSG00000105388 | missense_variant | NA | NA | |
19 | 41,709,949 | A | G | false | missense_variant | 1,034 | rs34155934 | 0.000166 | 0.17396 | 82.551 | missense_variant | missense_variant | ENSG00000105388 | 0 | ENSG00000105388 | 0 | 0 | ENSG00000105388 | missense_variant | ENSG00000105388 | 34 | ENSG00000105388 | 1,322 | 34 | ENSG00000105388 | missense_variant | NA | NA | |
19 | 41,709,953 | T | C | false | missense_variant | 1,034 | rs35091611 | 0.000168 | 0.17397 | 82.553 | missense_variant | missense_variant | ENSG00000105388 | 0 | ENSG00000105388 | 0 | 0 | ENSG00000105388 | missense_variant | ENSG00000105388 | 38 | ENSG00000105388 | 1,326 | 38 | ENSG00000105388 | missense_variant | NA | NA | |
19 | 41,751,466 | A | T | false | tss_proximal | 983 | rs6508996 | 0.000083 | 0.19607 | 77.448 | intron_variant | dELS | ENSG00000086548 | 176 | ENSG00000268833 | 6,431 | 176 | ENSG00000086548 | tss_proximal | ENSG00000086548 | 488 | ENSG00000268833 | 35,426 | 488 | ENSG00000086548 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 41,804,194 | G | A | true | distal | 1,053 | rs117457389 | 1 | Height | 0.021591 | 36.453 | intron_variant | dELS_flank | ENSG00000170956 | 4,618 | ENSG00000170956 | 2,916 | 2,916 | ENSG00000170956 | dELS_flank | ENSG00000170956 | 7,040 | ENSG00000170956 | 4,618 | 4,618 | ENSG00000170956 | distal | NA | NA |
19 | 41,863,549 | A | T | false | distal | 1,067 | rs7250787 | 0.000359 | 0.49785 | 169.02 | intron_variant | dELS | ENSG00000105372 | 1,988 | ENSG00000105372 | 321 | 321 | ENSG00000105372 | dELS | ENSG00000105372 | 3,102 | ENSG00000105372 | 2,770 | 2,770 | ENSG00000105372 | distal | NA | NA | |
19 | 41,896,884 | G | C | false | tss_proximal | 990 | rs192313544 | 0.000085 | 0.022937 | 23.387 | intron_variant | dELS_flank | ENSG00000076928 | 401 | ENSG00000076928 | 5 | 5 | ENSG00000076928 | tss_proximal | ENSG00000076928 | 926 | ENSG00000076928 | 790 | 790 | ENSG00000076928 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 42,224,969 | C | T | false | missense_variant | 1,035 | rs150807158 | 0.000098 | 0.014927 | 26.584 | missense_variant | missense_variant | ENSG00000167625 | 0 | ENSG00000160570 | 4,828 | 0 | ENSG00000167625 | missense_variant | ENSG00000167625 | 4,591 | ENSG00000160570 | 4,828 | 4,591 | ENSG00000167625 | missense_variant | NA | NA | |
19 | 42,248,868 | G | A | false | missense_variant | 1,017 | rs139842507 | 0.000127 | 0.020843 | 61.262 | missense_variant | missense_variant | ENSG00000105722 | 0 | ENSG00000268643 | 248 | 0 | ENSG00000105722 | missense_variant | ENSG00000105722 | 1,572 | ENSG00000268643 | 248 | 248 | ENSG00000268643 | missense_variant | NA | NA | |
19 | 42,271,989 | G | A | false | missense_variant | 1,019 | rs188464728 | 0.000082 | 0.001933 | 7.4957 | missense_variant | missense_variant | ENSG00000079432 | 0 | ENSG00000079432 | 8,002 | 0 | ENSG00000079432 | missense_variant | ENSG00000079432 | 2,736 | ENSG00000079432 | 8,002 | 2,736 | ENSG00000079432 | missense_variant | NA | NA | |
19 | 42,272,360 | A | T | false | missense_variant | 1,019 | rs547565552 | 0.000141 | 0.004495 | 10.436 | missense_variant | missense_variant | ENSG00000079432 | 0 | ENSG00000079432 | 7,631 | 0 | ENSG00000079432 | missense_variant | ENSG00000079432 | 3,107 | ENSG00000079432 | 7,631 | 3,107 | ENSG00000079432 | missense_variant | NA | NA | |
19 | 42,327,033 | A | G | false | distal | 996 | rs61752196 | 0.003482 | 0.086384 | 89.73 | intron_variant | pELS_flank | ENSG00000105429 | 602 | ENSG00000167619 | 12,030 | 602 | ENSG00000105429 | pELS_flank | ENSG00000105429 | 1,397 | ENSG00000167619 | 12,760 | 1,397 | ENSG00000105429 | distal | NA | NA | |
19 | 42,348,328 | G | A | false | synonymous_variant | 1,063 | rs1676211 | 0.006999 | 0.048431 | 237.63 | synonymous_variant | synonymous_variant | ENSG00000105429 | 0 | ENSG00000277533 | 2,802 | 0 | ENSG00000105429 | synonymous_variant | ENSG00000105429 | 12,641 | ENSG00000277533 | 2,802 | 2,802 | ENSG00000277533 | synonymous_variant | NA | NA | |
19 | 42,516,859 | G | C | false | missense_variant | 1,031 | rs10412463 | 0.000079 | 0.081089 | 400.16 | missense_variant | missense_variant | ENSG00000079385 | 0 | ENSG00000079385 | 1,656 | 0 | ENSG00000079385 | missense_variant | ENSG00000079385 | 4,379 | ENSG00000079385 | 2,603 | 2,603 | ENSG00000079385 | missense_variant | NA | NA | |
19 | 42,606,811 | C | G | false | distal | 1,083 | rs6509020 | 0.000087 | 0.081344 | 400.15 | intron_variant | dELS | ENSG00000124469 | 11,755 | ENSG00000233681 | 13,400 | 11,755 | ENSG00000124469 | dELS | ENSG00000124469 | 11,755 | ENSG00000233681 | 26,222 | 11,755 | ENSG00000124469 | distal | NA | NA | |
19 | 42,710,459 | A | G | false | distal | 1,083 | rs4141248 | 0.000084 | 0.079709 | 390.37 | intergenic_variant | dELS | ENSG00000221826 | 11,182 | ENSG00000221826 | 11,178 | 11,178 | ENSG00000221826 | dELS | ENSG00000221826 | 29,924 | ENSG00000221826 | 28,912 | 28,912 | ENSG00000221826 | distal | NA | NA | |
19 | 42,739,065 | A | G | false | missense_variant | 1,010 | rs12185496 | 0.000251 | 0.46354 | 95.66 | missense_variant | missense_variant | ENSG00000221826 | 0 | ENSG00000221826 | 0 | 0 | ENSG00000221826 | missense_variant | ENSG00000221826 | 1,318 | ENSG00000221826 | 306 | 306 | ENSG00000221826 | missense_variant | NA | NA | |
19 | 42,739,086 | A | G | false | missense_variant | 1,010 | rs11559136 | 0.000249 | 0.46354 | 95.661 | missense_variant | missense_variant | ENSG00000221826 | 0 | ENSG00000221826 | 0 | 0 | ENSG00000221826 | missense_variant | ENSG00000221826 | 1,297 | ENSG00000221826 | 285 | 285 | ENSG00000221826 | missense_variant | NA | NA | |
19 | 42,919,035 | A | G | false | 5_prime_UTR_variant | 1,099 | rs187896757 | 0.000016 | 0.023645 | 34.268 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000170848 | 0 | ENSG00000170848 | 1,024 | 0 | ENSG00000170848 | 5_prime_UTR_variant | ENSG00000170848 | 527 | ENSG00000170848 | 1,024 | 527 | ENSG00000170848 | 5_prime_UTR_variant | NA | NA | |
19 | 42,919,041 | G | C | false | 5_prime_UTR_variant | 1,099 | rs192457283 | 0.000017 | 0.023589 | 34.223 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000170848 | 0 | ENSG00000170848 | 1,030 | 0 | ENSG00000170848 | 5_prime_UTR_variant | ENSG00000170848 | 521 | ENSG00000170848 | 1,030 | 521 | ENSG00000170848 | 5_prime_UTR_variant | NA | NA | |
19 | 43,024,874 | C | T | false | missense_variant | 1,003 | rs2471952 | 0.000044 | 0.44102 | 338.97 | missense_variant | missense_variant | ENSG00000243130 | 0 | ENSG00000243130 | 0 | 0 | ENSG00000243130 | missense_variant | ENSG00000243130 | 1,573 | ENSG00000243130 | 29 | 29 | ENSG00000243130 | missense_variant | NA | NA | |
19 | 43,024,875 | A | G | false | synonymous_variant | 1,061 | rs1058958 | 0.000049 | 0.44486 | 343.02 | synonymous_variant | synonymous_variant | ENSG00000243130 | 0 | ENSG00000243130 | 0 | 0 | ENSG00000243130 | synonymous_variant | ENSG00000243130 | 1,572 | ENSG00000243130 | 30 | 30 | ENSG00000243130 | synonymous_variant | NA | NA | |
19 | 43,107,541 | G | C | false | distal | 1,072 | rs57488844 | 0.000129 | 0.12183 | 203.76 | intron_variant | dELS | ENSG00000242221 | 24,839 | ENSG00000282943 | 5,840 | 5,840 | ENSG00000282943 | dELS | ENSG00000242221 | 24,839 | ENSG00000282943 | 5,979 | 5,979 | ENSG00000282943 | distal | NA | NA | |
19 | 43,175,258 | A | G | false | synonymous_variant | 1,057 | rs1058467 | 0.000102 | 0.38925 | 387.2 | synonymous_variant | synonymous_variant | ENSG00000204941 | 0 | ENSG00000204941 | 404 | 0 | ENSG00000204941 | synonymous_variant | ENSG00000204941 | 11,231 | ENSG00000204941 | 4,686 | 4,686 | ENSG00000204941 | synonymous_variant | NA | NA | |
19 | 43,186,354 | G | C | false | missense_variant | 1,033 | rs8107936 | 0.000104 | 0.39978 | 377.29 | missense_variant | missense_variant | ENSG00000204941 | 0 | ENSG00000204941 | 0 | 0 | ENSG00000204941 | missense_variant | ENSG00000204941 | 135 | ENSG00000204941 | 139 | 135 | ENSG00000204941 | missense_variant | NA | NA | |
19 | 43,212,484 | A | G | false | splicing | 1,132 | rs4550581 | 0.000017 | 0.23068 | 427.05 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000183668 | 8 | ENSG00000183668 | 8 | 8 | ENSG00000183668 | splice_polypyrimidine_tract_variant | ENSG00000243137 | 6,709 | ENSG00000243137 | 5,184 | 5,184 | ENSG00000243137 | splicing | NA | splicing:b1 | |
19 | 43,221,025 | A | G | false | tss_proximal | 1,065 | rs10412261 | 0.000017 | 0.23129 | 426.37 | intron_variant | intron_variant | ENSG00000183668 | 8,549 | ENSG00000241104 | 153 | 153 | ENSG00000241104 | tss_proximal | ENSG00000243137 | 15,250 | ENSG00000241104 | 153 | 153 | ENSG00000241104 | tss_proximal | tss_prox:b2 | tss_prox:b2 | |
19 | 43,351,577 | G | T | false | distal | 997 | rs8112926 | 0.00881 | 0.30857 | 95.264 | intergenic_variant | pELS_flank | ENSG00000204936 | 2,108 | ENSG00000204936 | 2,137 | 2,108 | ENSG00000204936 | pELS_flank | ENSG00000204936 | 2,108 | ENSG00000204936 | 2,137 | 2,108 | ENSG00000204936 | distal | NA | NA | |
19 | 43,353,968 | G | C | false | missense_variant | 1,022 | rs201150439 | 0.000116 | 0.000974 | 6.9815 | missense_variant | missense_variant | ENSG00000204936 | 0 | ENSG00000204936 | 0 | 0 | ENSG00000204936 | missense_variant | ENSG00000204936 | 276 | ENSG00000204936 | 252 | 252 | ENSG00000204936 | missense_variant | NA | NA | |
19 | 43,370,711 | C | T | false | distal | 1,134 | rs12971355 | 0.000049 | 0.23356 | 56.273 | intergenic_variant | intergenic_variant | ENSG00000204936 | 7,538 | ENSG00000272396 | 1,740 | 1,740 | ENSG00000272396 | intergenic_variant | ENSG00000204936 | 17,019 | ENSG00000272396 | 1,740 | 1,740 | ENSG00000272396 | distal | NA | NA | |
19 | 43,370,739 | A | C | false | distal | 1,134 | rs7252971 | 0.000126 | 0.225 | 37.041 | intergenic_variant | intergenic_variant | ENSG00000204936 | 7,566 | ENSG00000272396 | 1,768 | 1,768 | ENSG00000272396 | intergenic_variant | ENSG00000204936 | 17,047 | ENSG00000272396 | 1,768 | 1,768 | ENSG00000272396 | distal | NA | NA | |
19 | 43,536,845 | T | C | true | distal | 1,130 | rs2682562 | 1 | Height | 0.18896 | 94.512 | downstream_gene_variant | downstream_gene_variant | ENSG00000176472 | 714 | ENSG00000176472 | 2,578 | 714 | ENSG00000176472 | downstream_gene_variant | ENSG00000176472 | 3,431 | ENSG00000176472 | 3,408 | 3,408 | ENSG00000176472 | distal | NA | NA |
19 | 43,552,260 | C | T | false | missense_variant | 1,016 | rs25489 | 0.000062 | 0.043524 | 51.708 | missense_variant | missense_variant | ENSG00000073050 | 0 | ENSG00000073050 | 0 | 0 | ENSG00000073050 | missense_variant | ENSG00000176472 | 18,846 | ENSG00000269177 | 1,184 | 1,184 | ENSG00000269177 | missense_variant | NA | NA | |
19 | 43,564,041 | C | T | false | distal | 1,054 | rs2854496 | 0.006389 | 0.18743 | 94.327 | intron_variant | dELS_flank | ENSG00000073050 | 3,020 | ENSG00000073050 | 3,020 | 3,020 | ENSG00000073050 | dELS_flank | ENSG00000073050 | 11,485 | ENSG00000073050 | 3,091 | 3,091 | ENSG00000073050 | distal | NA | NA | |
19 | 43,564,554 | T | C | true | distal | 1,054 | rs2021092 | 1 | Height | 0.18751 | 94.296 | intron_variant | dELS_flank | ENSG00000073050 | 3,533 | ENSG00000073050 | 3,533 | 3,533 | ENSG00000073050 | dELS_flank | ENSG00000073050 | 10,972 | ENSG00000073050 | 3,604 | 3,604 | ENSG00000073050 | distal | NA | NA |
19 | 43,593,607 | G | A | false | tss_proximal | 986 | rs2240931 | 0.000104 | 0.04819 | 58.019 | intron_variant | pELS | ENSG00000167378 | 239 | ENSG00000167378 | 599 | 239 | ENSG00000167378 | tss_proximal | ENSG00000268361 | 570 | ENSG00000167378 | 599 | 570 | ENSG00000268361 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 43,595,386 | C | T | false | 5_prime_UTR_variant | 1,099 | rs116968052 | 0.000076 | 0.024164 | 31.192 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000167378 | 0 | ENSG00000124444 | 1,228 | 0 | ENSG00000167378 | 5_prime_UTR_variant | ENSG00000167378 | 137 | ENSG00000124444 | 1,228 | 137 | ENSG00000167378 | 5_prime_UTR_variant | NA | NA | |
19 | 43,619,742 | G | A | false | tss_proximal | 987 | rs3746002 | 0.000431 | 0.15313 | 65.092 | upstream_gene_variant | PLS | ENSG00000131116 | 112 | ENSG00000131116 | 113 | 112 | ENSG00000131116 | tss_proximal | ENSG00000131116 | 112 | ENSG00000131116 | 113 | 112 | ENSG00000131116 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 43,648,948 | A | G | true | missense_variant | 1,023 | rs4760 | 1 | Lym,Neutro,WBC | 0.15662 | 35.522 | missense_variant | missense_variant | ENSG00000011422 | 0 | ENSG00000011422 | 3,092 | 0 | ENSG00000011422 | missense_variant | ENSG00000011422 | 7,624 | ENSG00000011422 | 7,853 | 7,624 | ENSG00000011422 | missense_variant | NA | NA |
19 | 43,663,801 | A | C | false | distal | 1,040 | rs60664277 | 0.000138 | 0.13623 | 24.377 | intron_variant | dELS_flank | ENSG00000011422 | 1,514 | ENSG00000011422 | 1,308 | 1,308 | ENSG00000011422 | dELS_flank | ENSG00000011422 | 3,889 | ENSG00000011422 | 2,252 | 2,252 | ENSG00000011422 | distal | NA | NA | |
19 | 43,774,629 | G | A | true | splicing | 1,131 | rs563995 | 0.96013 | MCHC | 0.22657 | 50.171 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000104783 | 9 | ENSG00000104783 | 9 | 9 | ENSG00000104783 | splice_polypyrimidine_tract_variant | ENSG00000104783 | 4,801 | ENSG00000104783 | 132 | 132 | ENSG00000104783 | splicing | NA | splicing:b1 |
19 | 43,779,080 | C | T | false | distal | 995 | rs1685191 | 0.001027 | 0.4637 | 154.49 | intron_variant | pELS_flank | ENSG00000104783 | 1,622 | ENSG00000104783 | 1,622 | 1,622 | ENSG00000104783 | pELS_flank | ENSG00000104783 | 1,892 | ENSG00000104783 | 1,895 | 1,892 | ENSG00000104783 | distal | NA | NA | |
19 | 43,848,928 | T | C | false | 3_prime_UTR_variant | 1,110 | rs2217669 | 0.000994 | 0.42451 | 250.27 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000167637 | 0 | ENSG00000167637 | 7,452 | 0 | ENSG00000167637 | 3_prime_UTR_variant | ENSG00000167637 | 15,422 | ENSG00000167637 | 20,731 | 15,422 | ENSG00000167637 | 3_prime_UTR_variant | NA | NA | |
19 | 44,025,199 | G | A | false | non_coding_transcript_exon_variant | 980 | rs925866 | 0.000146 | 0.1459 | 115.6 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000159885 | 142 | ENSG00000267144 | 0 | 0 | ENSG00000267144 | non_coding_transcript_exon_variant | ENSG00000159885 | 142 | ENSG00000267144 | 33 | 33 | ENSG00000267144 | non_coding_transcript_exon_variant | NA | NA | |
19 | 44,237,481 | A | C | true | distal | 1,123 | rs139280117 | 1 | ApoA | 0.033365 | 36.811 | intron_variant | TF | ENSG00000131115 | 212 | ENSG00000159917 | 2,611 | 212 | ENSG00000131115 | TF | ENSG00000159915 | 22,398 | ENSG00000131115 | 10,355 | 10,355 | ENSG00000131115 | distal | NA | NA |
19 | 44,245,061 | T | G | false | distal | 1,127 | rs1233472 | 0.000154 | 0.12028 | 184.43 | intron_variant | intron_variant | ENSG00000131115 | 7,792 | ENSG00000279103 | 1,416 | 1,416 | ENSG00000279103 | intron_variant | ENSG00000159915 | 14,818 | ENSG00000279103 | 3,312 | 3,312 | ENSG00000279103 | distal | NA | NA | |
19 | 44,246,048 | T | C | false | distal | 1,127 | rs1233471 | 0.000164 | 0.12054 | 184.14 | intron_variant | intron_variant | ENSG00000131115 | 8,779 | ENSG00000279103 | 429 | 429 | ENSG00000279103 | intron_variant | ENSG00000159915 | 13,831 | ENSG00000279103 | 2,325 | 2,325 | ENSG00000279103 | distal | NA | NA | |
19 | 44,311,398 | A | C | false | distal | 1,121 | rs2609905 | 0.000343 | 0.12116 | 189.89 | intergenic_variant | CA-H3K4me3_flank | ENSG00000159917 | 6,351 | ENSG00000159917 | 7,965 | 6,351 | ENSG00000159917 | CA-H3K4me3_flank | ENSG00000159917 | 6,351 | ENSG00000159917 | 7,965 | 6,351 | ENSG00000159917 | distal | NA | NA | |
19 | 44,326,739 | C | A | false | 3_prime_UTR_variant | 1,112 | rs1582 | 0.001449 | 0.32514 | 188.72 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000062370 | 0 | ENSG00000062370 | 2,980 | 0 | ENSG00000062370 | 3_prime_UTR_variant | ENSG00000159917 | 21,692 | ENSG00000159917 | 23,306 | 21,692 | ENSG00000159917 | 3_prime_UTR_variant | NA | NA | |
19 | 44,329,698 | G | C | false | missense_variant | 1,037 | rs4280359 | 0.001605 | 0.32481 | 188.82 | missense_variant | missense_variant | ENSG00000062370 | 0 | ENSG00000062370 | 21 | 0 | ENSG00000062370 | missense_variant | ENSG00000159917 | 24,651 | ENSG00000159917 | 26,265 | 24,651 | ENSG00000159917 | missense_variant | NA | NA | |
19 | 44,426,566 | T | C | false | 3_prime_UTR_variant | 1,110 | rs1062098 | 0.000303 | 0.36294 | 139.5 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000278318 | 0 | ENSG00000278318 | 0 | 0 | ENSG00000278318 | 3_prime_UTR_variant | ENSG00000278318 | 21,894 | ENSG00000278318 | 21,879 | 21,879 | ENSG00000278318 | 3_prime_UTR_variant | NA | NA | |
19 | 44,428,797 | C | T | false | missense_variant | 1,037 | rs1434579 | 0.000315 | 0.34572 | 131.14 | missense_variant | missense_variant | ENSG00000278318 | 0 | ENSG00000278318 | 0 | 0 | ENSG00000278318 | missense_variant | ENSG00000278318 | 19,663 | ENSG00000278318 | 19,648 | 19,648 | ENSG00000278318 | missense_variant | NA | NA | |
19 | 44,429,772 | G | A | false | missense_variant | 1,037 | rs12151338 | 0.000251 | 0.3603 | 141.77 | missense_variant | missense_variant | ENSG00000278318 | 0 | ENSG00000278318 | 0 | 0 | ENSG00000278318 | missense_variant | ENSG00000278318 | 18,688 | ENSG00000278318 | 18,673 | 18,673 | ENSG00000278318 | missense_variant | NA | NA | |
19 | 44,443,013 | T | C | false | 5_prime_UTR_variant | 1,101 | rs204546 | 0.000295 | 0.012112 | 80.523 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000278318 | 0 | ENSG00000278318 | 0 | 0 | ENSG00000278318 | 5_prime_UTR_variant | ENSG00000278318 | 5,447 | ENSG00000278318 | 5,432 | 5,432 | ENSG00000278318 | 5_prime_UTR_variant | NA | NA | |
19 | 44,498,511 | G | A | false | distal | 1,049 | rs3786497 | 0.000121 | 0.16366 | 46.778 | intron_variant | dELS_flank | ENSG00000167384 | 1,133 | ENSG00000167384 | 1,133 | 1,133 | ENSG00000167384 | dELS_flank | ENSG00000167384 | 1,998 | ENSG00000167384 | 1,983 | 1,983 | ENSG00000167384 | distal | NA | NA | |
19 | 44,524,079 | T | C | false | missense_variant | 1,004 | rs35443082 | 0.000435 | 0.053018 | 68.4 | missense_variant | missense_variant | ENSG00000273777 | 0 | ENSG00000267614 | 12,183 | 0 | ENSG00000273777 | missense_variant | ENSG00000273777 | 5,445 | ENSG00000267614 | 12,533 | 5,445 | ENSG00000273777 | missense_variant | NA | NA | |
19 | 44,608,264 | G | C | true | distal | 1,089 | rs147297605 | 0.99308 | TG | 0.001593 | 4.6708 | intron_variant | dELS | ENSG00000216588 | 5,298 | ENSG00000230666 | 12,500 | 5,298 | ENSG00000216588 | dELS | ENSG00000216588 | 5,298 | ENSG00000230666 | 12,556 | 5,298 | ENSG00000216588 | distal | NA | NA |
19 | 44,651,971 | T | C | false | distal | 1,050 | rs183307872 | 0.002808 | 0.003773 | 10.589 | intron_variant | dELS_flank | ENSG00000073008 | 1,865 | ENSG00000283673 | 1,714 | 1,714 | ENSG00000283673 | dELS_flank | ENSG00000073008 | 1,929 | ENSG00000283673 | 1,760 | 1,760 | ENSG00000283673 | distal | NA | NA | |
19 | 44,658,770 | G | A | false | splicing | 1,119 | rs203710 | 0.003824 | 0.02844 | 18.362 | splice_donor_5th_base_variant | splice_donor_5th_base_variant | ENSG00000073008 | 0 | ENSG00000073008 | 0 | 0 | ENSG00000073008 | splice_donor_5th_base_variant | ENSG00000186567 | 3,507 | ENSG00000283673 | 5,037 | 3,507 | ENSG00000186567 | splicing | NA | splicing:b0 | |
19 | 44,703,407 | C | T | false | synonymous_variant | 1,062 | rs191552868 | 0.000041 | 0.001491 | 5.4646 | synonymous_variant | synonymous_variant | ENSG00000213892 | 0 | ENSG00000266903 | 4,229 | 0 | ENSG00000213892 | synonymous_variant | ENSG00000213892 | 2,046 | ENSG00000266903 | 15,223 | 2,046 | ENSG00000213892 | synonymous_variant | NA | NA | |
19 | 44,736,312 | G | A | false | distal | 999 | rs56702353 | 0.005775 | 0.23228 | 56.653 | intergenic_variant | pELS_flank | ENSG00000069399 | 12,395 | ENSG00000288773 | 1,265 | 1,265 | ENSG00000288773 | pELS_flank | ENSG00000069399 | 12,395 | ENSG00000288773 | 1,265 | 1,265 | ENSG00000288773 | distal | NA | NA | |
19 | 44,736,390 | G | A | false | distal | 999 | rs59170622 | 0.006168 | 0.23242 | 56.637 | intergenic_variant | pELS_flank | ENSG00000069399 | 12,317 | ENSG00000288773 | 1,187 | 1,187 | ENSG00000288773 | pELS_flank | ENSG00000069399 | 12,317 | ENSG00000288773 | 1,187 | 1,187 | ENSG00000288773 | distal | NA | NA | |
19 | 44,748,549 | G | T | true | tss_proximal | 990 | rs531660643 | 0.99953 | Eosino | 0.023227 | 29.295 | intron_variant | PLS | ENSG00000069399 | 158 | ENSG00000069399 | 145 | 145 | ENSG00000069399 | tss_proximal | ENSG00000069399 | 158 | ENSG00000069399 | 712 | 158 | ENSG00000069399 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
19 | 44,774,784 | A | G | false | distal | 1,092 | rs2965142 | 0.000204 | 0.08097 | 16.48 | intergenic_variant | dELS | ENSG00000142273 | 3,084 | ENSG00000142273 | 6,141 | 3,084 | ENSG00000142273 | dELS | ENSG00000142273 | 3,084 | ENSG00000142273 | 6,141 | 3,084 | ENSG00000142273 | distal | NA | NA | |
19 | 44,781,009 | A | C | false | missense_variant | 1,006 | rs35106910 | 0.000341 | 0.036139 | 48.086 | missense_variant | missense_variant | ENSG00000142273 | 0 | ENSG00000142273 | 0 | 0 | ENSG00000142273 | missense_variant | ENSG00000142273 | 3,118 | ENSG00000142273 | 82 | 82 | ENSG00000142273 | missense_variant | NA | NA | |
19 | 44,808,266 | C | T | false | tss_proximal | 989 | rs2927478 | 0.000462 | 0.055351 | 62.928 | upstream_gene_variant | pELS | ENSG00000187244 | 804 | ENSG00000187244 | 848 | 804 | ENSG00000187244 | tss_proximal | ENSG00000187244 | 804 | ENSG00000187244 | 848 | 804 | ENSG00000187244 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
19 | 44,830,756 | C | G | false | distal | 1,133 | rs2972555 | 0.00044 | 0.23516 | 54.639 | intergenic_variant | intergenic_variant | ENSG00000187244 | 9,334 | ENSG00000187244 | 10,695 | 9,334 | ENSG00000187244 | intergenic_variant | ENSG00000130202 | 15,418 | ENSG00000187244 | 11,508 | 11,508 | ENSG00000187244 | distal | NA | NA | |
19 | 44,876,489 | A | G | false | distal | 1,040 | rs73050293 | 0.000639 | 0.13094 | 39.733 | intron_variant | dELS_flank | ENSG00000130202 | 1,733 | ENSG00000130202 | 1,799 | 1,733 | ENSG00000130202 | dELS_flank | ENSG00000130202 | 2,109 | ENSG00000130202 | 2,546 | 2,109 | ENSG00000130202 | distal | NA | NA | |
19 | 44,888,997 | C | T | true | 3_prime_UTR_variant | 1,108 | rs6857 | 0.92729 | BW | 0.17155 | 45.276 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000130202 | 0 | ENSG00000267282 | 1,765 | 0 | ENSG00000130202 | 3_prime_UTR_variant | ENSG00000130204 | 1,571 | ENSG00000267282 | 1,878 | 1,571 | ENSG00000130204 | 3_prime_UTR_variant | NA | NA |
19 | 44,908,684 | T | C | true | missense_variant | 1,024 | rs429358 | 1 | ALP,ALT,Alzheimer,ApoA,ApoB,CRP,HDLC,Plt,TC,eGFR,sCr | 0.15601 | 44.066 | missense_variant | missense_variant | ENSG00000130203 | 0 | ENSG00000280087 | 690 | 0 | ENSG00000130203 | missense_variant | ENSG00000130203 | 2,323 | ENSG00000280087 | 690 | 690 | ENSG00000280087 | missense_variant | NA | NA |
19 | 44,908,822 | C | T | true | missense_variant | 1,025 | rs7412 | 1 | ApoA | 0.080736 | 43.207 | missense_variant | missense_variant | ENSG00000130203 | 0 | ENSG00000280087 | 552 | 0 | ENSG00000130203 | missense_variant | ENSG00000130203 | 2,461 | ENSG00000280087 | 552 | 552 | ENSG00000280087 | missense_variant | NA | NA |
19 | 44,909,976 | G | T | true | tss_proximal | 1,097 | rs1065853 | 1 | ApoB,LDLC,LipoA | 0.080606 | 43.511 | downstream_gene_variant | pELS | ENSG00000130203 | 582 | ENSG00000280087 | 0 | 0 | ENSG00000280087 | tss_proximal | ENSG00000130203 | 3,615 | ENSG00000280087 | 600 | 600 | ENSG00000280087 | tss_proximal | tss_prox:b2 | tss_prox:b1 |
19 | 44,910,109 | T | C | false | tss_proximal | 1,097 | rs1081106 | 0.000086 | 0.080508 | 25.473 | downstream_gene_variant | pELS | ENSG00000130203 | 715 | ENSG00000280087 | 0 | 0 | ENSG00000280087 | tss_proximal | ENSG00000130203 | 3,748 | ENSG00000280087 | 733 | 733 | ENSG00000280087 | tss_proximal | tss_prox:b2 | tss_prox:b1 | |
19 | 44,919,304 | T | G | true | 3_prime_UTR_variant | 1,109 | rs1064725 | 0.99119 | TG | 0.040639 | 18.111 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000130208 | 0 | ENSG00000130208 | 0 | 0 | ENSG00000130208 | 3_prime_UTR_variant | ENSG00000130208 | 4,434 | ENSG00000130208 | 4,434 | 4,434 | ENSG00000130208 | 3_prime_UTR_variant | NA | NA |
19 | 44,927,023 | C | G | true | non_coding_transcript_exon_variant | 979 | rs5112 | 1 | ALP,CRP,HbA1c,LDLC,TBil,TC,TG | 0.46721 | 27.853 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000130208 | 7,676 | ENSG00000214855 | 0 | 0 | ENSG00000214855 | non_coding_transcript_exon_variant | ENSG00000130208 | 12,153 | ENSG00000214855 | 46 | 46 | ENSG00000214855 | non_coding_transcript_exon_variant | NA | NA |
19 | 44,935,906 | C | G | true | distal | 1,090 | rs35136575 | 1 | ALP,ApoB,CRP,LDLC,TC | 0.24113 | 28.337 | intergenic_variant | dELS | ENSG00000267467 | 6,330 | ENSG00000214855 | 4,402 | 4,402 | ENSG00000214855 | dELS | ENSG00000267467 | 6,330 | ENSG00000224916 | 6,331 | 6,330 | ENSG00000267467 | distal | NA | NA |
19 | 44,942,510 | G | C | true | tss_proximal | 991 | rs370742602 | 1 | Height | 0.003589 | 6.9194 | intron_variant | pELS | ENSG00000267467 | 156 | ENSG00000224916 | 156 | 156 | ENSG00000267467 | tss_proximal | ENSG00000267467 | 235 | ENSG00000224916 | 271 | 235 | ENSG00000267467 | tss_proximal | tss_prox:b1 | tss_prox:b1 |
19 | 44,945,208 | T | G | true | missense_variant | 1,026 | rs5167 | 1 | ApoA,HDLC | 0.35057 | 94.012 | missense_variant | missense_variant | ENSG00000267467 | 0 | ENSG00000224916 | 0 | 0 | ENSG00000267467 | missense_variant | ENSG00000234906 | 826 | ENSG00000224916 | 2,969 | 826 | ENSG00000234906 | missense_variant | NA | NA |
19 | 44,984,413 | A | T | false | non_coding_transcript_exon_variant | 981 | rs73558200 | 0.000583 | 0.042855 | 50.592 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000104853 | 804 | ENSG00000104853 | 0 | 0 | ENSG00000104853 | non_coding_transcript_exon_variant | ENSG00000104853 | 7,854 | ENSG00000104853 | 125 | 125 | ENSG00000104853 | non_coding_transcript_exon_variant | NA | NA | |
19 | 45,069,993 | G | A | false | missense_variant | 1,021 | rs112812697 | 0.000139 | 0.014837 | 45.951 | missense_variant | missense_variant | ENSG00000104859 | 0 | ENSG00000104859 | 0 | 0 | ENSG00000104859 | missense_variant | ENSG00000104859 | 1,572 | ENSG00000104859 | 153 | 153 | ENSG00000104859 | missense_variant | NA | NA | |
19 | 45,071,497 | G | C | false | distal | 1,067 | rs28673961 | 0.000311 | 0.49516 | 59.749 | downstream_gene_variant | dELS | ENSG00000170684 | 2 | ENSG00000104859 | 540 | 2 | ENSG00000170684 | dELS | ENSG00000104859 | 3,076 | ENSG00000104859 | 1,657 | 1,657 | ENSG00000104859 | distal | NA | NA | |
19 | 45,212,226 | A | G | false | distal | 1,069 | rs10405928 | 0.00169 | 0.42647 | 47.471 | intron_variant | dELS | ENSG00000283632 | 143 | ENSG00000189114 | 4,449 | 143 | ENSG00000283632 | dELS | ENSG00000189114 | 32,556 | ENSG00000189114 | 24,837 | 24,837 | ENSG00000189114 | distal | NA | NA | |
19 | 45,212,939 | A | G | true | 3_prime_UTR_variant | 1,110 | rs11667430 | 0.982895 | Plt | 0.39528 | 48.266 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000283632 | 0 | ENSG00000189114 | 3,736 | 0 | ENSG00000283632 | 3_prime_UTR_variant | ENSG00000283632 | 32,467 | ENSG00000189114 | 25,550 | 25,550 | ENSG00000189114 | 3_prime_UTR_variant | NA | NA |
19 | 45,253,495 | A | G | false | distal | 1,079 | rs12981533 | 0.000333 | 0.29387 | 95.736 | intron_variant | dELS | ENSG00000007047 | 1,855 | ENSG00000007047 | 1,855 | 1,855 | ENSG00000007047 | dELS | ENSG00000007047 | 2,202 | ENSG00000007047 | 2,107 | 2,107 | ENSG00000007047 | distal | NA | NA | |
19 | 45,253,505 | C | T | false | distal | 1,079 | rs36073297 | 0.000288 | 0.28827 | 95.842 | intron_variant | dELS | ENSG00000007047 | 1,865 | ENSG00000007047 | 1,865 | 1,865 | ENSG00000007047 | dELS | ENSG00000007047 | 2,212 | ENSG00000007047 | 2,117 | 2,117 | ENSG00000007047 | distal | NA | NA | |
19 | 45,301,106 | A | C | false | distal | 1,045 | rs11667235 | 0.00034 | 0.30281 | 96.002 | intron_variant | dELS_flank | ENSG00000007047 | 1,250 | ENSG00000007047 | 12,553 | 1,250 | ENSG00000007047 | dELS_flank | ENSG00000104879 | 21,768 | ENSG00000007047 | 20,960 | 20,960 | ENSG00000007047 | distal | NA | NA | |
19 | 45,308,434 | C | G | true | missense_variant | 1,027 | rs149354459 | 0.984795 | AST | 0.003101 | 8.9582 | missense_variant | missense_variant | ENSG00000104879 | 0 | ENSG00000007047 | 19,881 | 0 | ENSG00000104879 | missense_variant | ENSG00000104879 | 14,440 | ENSG00000242675 | 24,689 | 14,440 | ENSG00000104879 | missense_variant | NA | NA |
19 | 45,320,806 | G | A | false | distal | 996 | rs17875646 | 0.000254 | 0.083274 | 58.03 | intron_variant | pELS_flank | ENSG00000104879 | 1,074 | ENSG00000242675 | 11,891 | 1,074 | ENSG00000104879 | pELS_flank | ENSG00000104879 | 2,068 | ENSG00000242675 | 12,317 | 2,068 | ENSG00000104879 | distal | NA | NA | |
19 | 45,321,762 | C | T | false | distal | 996 | rs17875644 | 0.000244 | 0.08332 | 57.82 | intron_variant | pELS_flank | ENSG00000104879 | 1,058 | ENSG00000242675 | 10,935 | 1,058 | ENSG00000104879 | pELS_flank | ENSG00000104879 | 1,112 | ENSG00000242675 | 11,361 | 1,112 | ENSG00000104879 | distal | NA | NA | |
19 | 45,358,334 | T | C | false | non_coding_transcript_exon_variant | 981 | rs3916847 | 0.000112 | 0.041184 | 20.092 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000104884 | 424 | ENSG00000104884 | 0 | 0 | ENSG00000104884 | non_coding_transcript_exon_variant | ENSG00000104884 | 12,049 | ENSG00000104884 | 157 | 157 | ENSG00000104884 | non_coding_transcript_exon_variant | NA | NA | |
19 | 45,365,051 | T | G | false | synonymous_variant | 1,061 | rs238406 | 0.002213 | 0.4542 | 104.22 | synonymous_variant | synonymous_variant | ENSG00000104884 | 0 | ENSG00000104884 | 0 | 0 | ENSG00000104884 | synonymous_variant | ENSG00000104884 | 5,332 | ENSG00000104884 | 993 | 993 | ENSG00000104884 | synonymous_variant | NA | NA |
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