Datasets:

marin-dna
/

evals_complex_traits

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Split (2)

train · 11.6k rows

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	41,460,177	G	A	false	missense_variant	830	rs117083040	0.0006		0.023026	67.31	missense_variant	missense_variant	ENSG00000108759	0	ENSG00000236473	6,121	0	ENSG00000108759	missense_variant	ENSG00000108759	7,208	ENSG00000236473	6,121	6,121	ENSG00000236473	missense_variant	NA	NA
17	41,464,313	C	T	false	missense_variant	826	rs72830046	0.001082		0.306	256.61	missense_variant	missense_variant	ENSG00000108759	0	ENSG00000223125	3,642	0	ENSG00000108759	missense_variant	ENSG00000108759	3,072	ENSG00000223125	3,642	3,072	ENSG00000108759	missense_variant	NA	NA
17	41,466,846	C	G	false	tss_proximal	868	rs76526153	0.000131		0.021563	41.067	intron_variant	pELS	ENSG00000108759	11	ENSG00000223125	1,109	11	ENSG00000108759	tss_proximal	ENSG00000108759	539	ENSG00000223125	1,109	539	ENSG00000108759	tss_proximal	tss_prox:b1	tss_prox:b0
17	41,538,496	C	T	false	distal	848	rs113788973	0.000202		0.004626	30.676	intergenic_variant	dELS_flank	ENSG00000171345	10,187	ENSG00000226629	11,109	10,187	ENSG00000171345	dELS_flank	ENSG00000171345	10,187	ENSG00000171345	12,823	10,187	ENSG00000171345	distal	NA	NA
17	41,538,543	G	A	false	distal	848	rs112511939	0.000216		0.004642	30.64	intergenic_variant	dELS_flank	ENSG00000171345	10,234	ENSG00000226629	11,062	10,234	ENSG00000171345	dELS_flank	ENSG00000171345	10,234	ENSG00000171345	12,870	10,234	ENSG00000171345	distal	NA	NA
17	41,539,102	A	T	false	distal	848	rs79609189	0.000193		0.004685	30.892	intergenic_variant	dELS_flank	ENSG00000171345	10,793	ENSG00000226629	10,503	10,503	ENSG00000226629	dELS_flank	ENSG00000171345	10,793	ENSG00000171345	13,429	10,793	ENSG00000171345	distal	NA	NA
17	41,575,407	T	C	false	distal	875	rs4796674	0.000097		0.43801	157.43	intergenic_variant	dELS	ENSG00000171403	3,347	ENSG00000186847	6,901	3,347	ENSG00000171403	dELS	ENSG00000171403	3,347	ENSG00000186847	8,047	3,347	ENSG00000171403	distal	NA	NA
17	41,592,873	G	A	false	distal	875	rs35104997	0.000051		0.4322	161.5	intergenic_variant	dELS	ENSG00000186847	5,977	ENSG00000186847	8,401	5,977	ENSG00000186847	dELS	ENSG00000186847	5,977	ENSG00000186847	8,401	5,977	ENSG00000186847	distal	NA	NA
17	41,701,926	G	A	false	distal	848	rs76232324	0.000443		0.010891	145.53	intergenic_variant	dELS_flank	ENSG00000173812	9,257	ENSG00000173812	10,279	9,257	ENSG00000173812	dELS_flank	ENSG00000184502	10,404	ENSG00000173812	12,990	10,404	ENSG00000184502	distal	NA	NA
17	41,701,993	C	T	false	distal	848	rs79999080	0.000461		0.010893	145.57	intergenic_variant	dELS_flank	ENSG00000173812	9,324	ENSG00000173812	10,346	9,324	ENSG00000173812	dELS_flank	ENSG00000184502	10,337	ENSG00000173812	13,057	10,337	ENSG00000184502	distal	NA	NA
17	41,718,504	T	A	false	tss_proximal	926	rs4796686	0.000665		0.12198	121.74	intron_variant	pELS	ENSG00000173805	477	ENSG00000201920	243	243	ENSG00000201920	tss_proximal	ENSG00000184502	6,172	ENSG00000201920	349	349	ENSG00000201920	tss_proximal	tss_prox:b2	tss_prox:b1
17	41,718,564	A	G	false	tss_proximal	926	rs4796687	0.000676		0.12199	121.72	intron_variant	pELS	ENSG00000173805	537	ENSG00000201920	303	303	ENSG00000201920	tss_proximal	ENSG00000184502	6,232	ENSG00000201920	409	409	ENSG00000201920	tss_proximal	tss_prox:b2	tss_prox:b1
17	41,719,016	T	C	false	tss_proximal	926	rs7503765	0.000679		0.122	121.73	intron_variant	pELS_flank	ENSG00000173805	989	ENSG00000201920	755	755	ENSG00000201920	tss_proximal	ENSG00000173805	6,064	ENSG00000201920	861	861	ENSG00000201920	tss_proximal	tss_prox:b2	tss_prox:b1
17	41,819,772	G	A	false	3_prime_UTR_variant	910	rs11079016	0.001128		0.16275	197.9	3_prime_UTR_variant	3_prime_UTR_variant	ENSG00000141756	68	ENSG00000141756	0	0	ENSG00000141756	3_prime_UTR_variant	ENSG00000141756	516	ENSG00000141756	230	230	ENSG00000141756	3_prime_UTR_variant	NA	NA
17	41,835,736	G	A	false	5_prime_UTR_variant	888	rs1865841	0.000916		0.25853	244.7	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000161594	0	ENSG00000141698	0	0	ENSG00000161594	5_prime_UTR_variant	ENSG00000161594	50	ENSG00000141698	237	50	ENSG00000161594	5_prime_UTR_variant	NA	NA
17	41,837,496	T	C	false	5_prime_UTR_variant	892	rs4796714	0.002539		0.24824	253.45	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000161594	0	ENSG00000161594	328	0	ENSG00000161594	5_prime_UTR_variant	ENSG00000161594	328	ENSG00000161594	328	328	ENSG00000161594	5_prime_UTR_variant	NA	NA
17	41,837,519	G	A	false	5_prime_UTR_variant	892	rs4796715	0.00264		0.24834	253.39	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000161594	0	ENSG00000161594	305	0	ENSG00000161594	5_prime_UTR_variant	ENSG00000161594	305	ENSG00000161594	305	305	ENSG00000161594	5_prime_UTR_variant	NA	NA
17	42,003,449	G	A	false	5_prime_UTR_variant	891	rs8079958	0.000322		0.095067	177.18	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000168259	0	ENSG00000168259	0	0	ENSG00000168259	5_prime_UTR_variant	ENSG00000168259	2,919	ENSG00000168259	10,666	2,919	ENSG00000168259	5_prime_UTR_variant	NA	NA
17	42,046,083	C	T	false	distal	857	rs368924510	0.000096		0.006703	12.075	intron_variant	dELS_flank	ENSG00000267221	2,519	ENSG00000187595	15,155	2,519	ENSG00000267221	dELS_flank	ENSG00000267221	4,517	ENSG00000187595	17,951	4,517	ENSG00000267221	distal	NA	NA
17	42,046,478	T	C	false	distal	857	rs186541317	0.00019		0.001484	29.66	intron_variant	dELS_flank	ENSG00000267221	2,914	ENSG00000187595	14,760	2,914	ENSG00000267221	dELS_flank	ENSG00000267221	4,122	ENSG00000187595	18,346	4,122	ENSG00000267221	distal	NA	NA
17	42,075,335	C	G	false	distal	927	rs7224322	0.000162		0.30203	69.117	intron_variant	CA-CTCF	ENSG00000187595	12,276	ENSG00000187595	9,969	9,969	ENSG00000187595	CA-CTCF	ENSG00000187595	23,137	ENSG00000187595	9,969	9,969	ENSG00000187595	distal	NA	NA
17	42,103,725	T	C	false	missense_variant	827	rs112616358	0.000143		0.0244	46.679	missense_variant	missense_variant	ENSG00000108771	0	ENSG00000108771	0	0	ENSG00000108771	missense_variant	ENSG00000187595	5,245	ENSG00000108771	915	915	ENSG00000108771	missense_variant	NA	NA
17	42,185,385	G	T	false	5_prime_UTR_variant	885	rs4796777	0.000118		0.002304	8.2228	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000161610	0	ENSG00000167925	4,557	0	ENSG00000161610	5_prime_UTR_variant	ENSG00000161610	66	ENSG00000167925	5,684	66	ENSG00000161610	5_prime_UTR_variant	NA	NA
17	42,185,387	G	A	false	5_prime_UTR_variant	885	rs199702958	0.000331		0.002848	16.146	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000161610	0	ENSG00000167925	4,555	0	ENSG00000161610	5_prime_UTR_variant	ENSG00000161610	64	ENSG00000167925	5,682	64	ENSG00000161610	5_prime_UTR_variant	NA	NA
17	42,468,160	T	G	false	tss_proximal	866	rs138775477	0.000088		0.008092	18.533	intron_variant	dELS	ENSG00000033627	52	ENSG00000033627	52	52	ENSG00000033627	tss_proximal	ENSG00000033627	123	ENSG00000033627	2,021	123	ENSG00000033627	tss_proximal	tss_prox:b1	tss_prox:b0
17	42,577,801	C	T	false	5_prime_UTR_variant	889	rs191843707	0.00047		0.004432	16.54	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000131470	0	ENSG00000131470	5	0	ENSG00000131470	5_prime_UTR_variant	ENSG00000131470	29	ENSG00000131470	5	5	ENSG00000131470	5_prime_UTR_variant	NA	NA
17	42,630,302	G	T	false	distal	852	rs11653864	0.004625		0.28101	180.62	intergenic_variant	dELS_flank	ENSG00000131462	15,063	ENSG00000131462	15,075	15,063	ENSG00000131462	dELS_flank	ENSG00000141699	19,678	ENSG00000267189	17,531	17,531	ENSG00000267189	distal	NA	NA
17	42,659,289	A	G	false	5_prime_UTR_variant	889	rs149052601	0.000116		0.004642	16.673	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000037042	0	ENSG00000037042	17	0	ENSG00000037042	5_prime_UTR_variant	ENSG00000037042	4	ENSG00000037042	17	4	ENSG00000037042	5_prime_UTR_variant	NA	NA
17	42,761,910	A	C	false	tss_proximal	867	rs74717875	0.000044		0.024758	31.73	intron_variant	PLS_flank	ENSG00000131477	10	ENSG00000131477	10	10	ENSG00000131477	tss_proximal	ENSG00000131477	651	ENSG00000197291	652	651	ENSG00000131477	tss_proximal	tss_prox:b1	tss_prox:b0
17	42,799,012	G	A	false	5_prime_UTR_variant	893	rs72826975	0.000085		0.012022	53.576	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000176563	0	ENSG00000176563	0	0	ENSG00000176563	5_prime_UTR_variant	ENSG00000176563	124	ENSG00000176563	141	124	ENSG00000176563	5_prime_UTR_variant	NA	NA
17	42,924,185	C	T	false	distal	852	rs225583	0.005255		0.28366	79.486	intergenic_variant	dELS_flank	ENSG00000131482	9,746	ENSG00000212149	16,389	9,746	ENSG00000131482	dELS_flank	ENSG00000131482	23,384	ENSG00000212149	16,516	16,516	ENSG00000212149	distal	NA	NA
17	42,924,253	T	C	false	distal	852	rs775987	0.003114		0.284	79.719	intergenic_variant	dELS_flank	ENSG00000131482	9,814	ENSG00000212149	16,321	9,814	ENSG00000131482	dELS_flank	ENSG00000131482	23,452	ENSG00000212149	16,448	16,448	ENSG00000212149	distal	NA	NA
17	42,924,280	G	A	false	distal	852	rs62079763	0.003557		0.28462	79.835	intergenic_variant	dELS_flank	ENSG00000131482	9,841	ENSG00000212149	16,294	9,841	ENSG00000131482	dELS_flank	ENSG00000131482	23,479	ENSG00000212149	16,421	16,421	ENSG00000212149	distal	NA	NA
17	43,012,209	A	G	false	missense_variant	836	rs148786311	0.000059		0.00288	17.255	missense_variant	missense_variant	ENSG00000068079	0	ENSG00000068079	0	0	ENSG00000068079	missense_variant	ENSG00000068079	5,424	ENSG00000068079	147	147	ENSG00000068079	missense_variant	NA	NA
17	43,091,492	T	C	false	missense_variant	823	rs28897689	0.000064		0.007672	23.583	missense_variant	missense_variant	ENSG00000012048	0	ENSG00000012048	0	0	ENSG00000012048	missense_variant	ENSG00000012048	331	ENSG00000012048	4,373	331	ENSG00000012048	missense_variant	NA	NA
17	43,127,753	A	G	false	distal	870	rs34410138	0.007648		0.34695	553.01	intron_variant	dELS	ENSG00000012048	2,269	ENSG00000198496	1,982	1,982	ENSG00000198496	dELS	ENSG00000012048	2,269	ENSG00000198496	2,108	2,108	ENSG00000198496	distal	NA	NA
17	43,209,941	A	G	false	missense_variant	825	rs8482	0.001634		0.33184	595.97	missense_variant	missense_variant	ENSG00000188554	0	ENSG00000184988	1,933	0	ENSG00000188554	missense_variant	ENSG00000184988	1,893	ENSG00000184988	1,933	1,893	ENSG00000184988	missense_variant	NA	NA
17	43,213,349	T	C	false	tss_proximal	932	rs142564218	0.000743		0.002843	6.4733	intron_variant	pELS_flank	ENSG00000184988	96	ENSG00000184988	96	96	ENSG00000184988	tss_proximal	ENSG00000184988	1,473	ENSG00000184988	304	304	ENSG00000184988	tss_proximal	tss_prox:b2	tss_prox:b0
17	43,411,424	T	G	false	distal	841	rs35150636	0.003132		0.38437	174.94	intergenic_variant	pELS	ENSG00000175906	10,286	ENSG00000251763	1,002	1,002	ENSG00000251763	pELS	ENSG00000175906	12,430	ENSG00000251763	1,002	1,002	ENSG00000251763	distal	NA	NA
17	43,814,287	C	T	false	missense_variant	822	rs34130012	0.000217		0.002587	10.575	missense_variant	missense_variant	ENSG00000161647	0	ENSG00000161647	0	0	ENSG00000161647	missense_variant	ENSG00000161647	17,954	ENSG00000161647	106	106	ENSG00000161647	missense_variant	NA	NA
17	43,815,244	A	G	false	tss_proximal	925	rs549755930	0.001323		0.001786	8.0165	intron_variant	dELS_flank	ENSG00000161647	793	ENSG00000161647	609	609	ENSG00000161647	tss_proximal	ENSG00000161647	16,997	ENSG00000161647	609	609	ENSG00000161647	tss_proximal	tss_prox:b2	tss_prox:b1
17	43,815,290	C	T	false	tss_proximal	925	rs547302331	0.001229		0.001953	12.678	intron_variant	dELS_flank	ENSG00000161647	747	ENSG00000161647	655	655	ENSG00000161647	tss_proximal	ENSG00000161647	16,951	ENSG00000161647	655	655	ENSG00000161647	tss_proximal	tss_prox:b2	tss_prox:b1
17	43,815,444	T	A	true	tss_proximal	925	rs567378197	0.90079	ApoA	0.002197	8.3278	intron_variant	dELS_flank	ENSG00000161647	593	ENSG00000161647	593	593	ENSG00000161647	tss_proximal	ENSG00000161647	16,797	ENSG00000161647	809	809	ENSG00000161647	tss_proximal	tss_prox:b2	tss_prox:b1
17	43,823,998	G	T	false	missense_variant	838	rs189143886	0.000473		0.007448	12.976	missense_variant	missense_variant	ENSG00000161647	0	ENSG00000161647	0	0	ENSG00000161647	missense_variant	ENSG00000161647	8,243	ENSG00000161647	3,083	3,083	ENSG00000161647	missense_variant	NA	NA
17	43,834,450	T	C	false	distal	839	rs9901676	0.001305		0.21246	184.83	intergenic_variant	pELS	ENSG00000161647	1,303	ENSG00000161647	1,279	1,279	ENSG00000161647	pELS	ENSG00000161647	1,303	ENSG00000161647	1,279	1,279	ENSG00000161647	distal	NA	NA
17	43,848,758	C	T	true	missense_variant	830	rs72836561	1	ApoA,Eosino,HDLC,TC,TG	0.031852	33.027	missense_variant	missense_variant	ENSG00000161649	0	ENSG00000161649	6,517	0	ENSG00000161649	missense_variant	ENSG00000161649	1,581	ENSG00000161649	6,517	1,581	ENSG00000161649	missense_variant	NA	NA
17	43,997,592	C	G	false	distal	859	rs62080330	0.005258		0.20916	127.79	intron_variant	dELS_flank	ENSG00000131096	6,798	ENSG00000161653	8,455	6,798	ENSG00000131096	dELS_flank	ENSG00000131096	6,876	ENSG00000161653	8,455	6,876	ENSG00000131096	distal	NA	NA
17	44,023,105	C	T	false	5_prime_UTR_variant	887	rs186366172	0.00106		0.006596	24.228	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000091947	0	ENSG00000091947	466	0	ENSG00000091947	5_prime_UTR_variant	ENSG00000091947	0	ENSG00000091947	840	0	ENSG00000091947	5_prime_UTR_variant	NA	NA
17	44,040,955	T	C	false	tss_proximal	925	rs532687760	0.000043		0.002065	15.227	intron_variant	dELS	ENSG00000161654	698	ENSG00000161654	614	614	ENSG00000161654	tss_proximal	ENSG00000091947	17,803	ENSG00000161654	614	614	ENSG00000161654	tss_proximal	tss_prox:b2	tss_prox:b1
17	44,114,428	G	A	true	distal	845	rs74456742	0.99983	TG	0.037216	29.273	intron_variant	pELS_flank	ENSG00000108840	3,065	ENSG00000267638	1,483	1,483	ENSG00000267638	pELS_flank	ENSG00000108840	3,086	ENSG00000267638	1,483	1,483	ENSG00000267638	distal	NA	NA
17	44,176,868	G	A	false	missense_variant	827	rs74491716	0.000694		0.023358	41.681	missense_variant	missense_variant	ENSG00000161664	0	ENSG00000267080	0	0	ENSG00000161664	missense_variant	ENSG00000161664	6,163	ENSG00000267080	444	444	ENSG00000267080	missense_variant	NA	NA
17	44,177,049	A	G	false	missense_variant	811	rs7212854	0.007867		0.25503	192.3	missense_variant	missense_variant	ENSG00000161664	0	ENSG00000267080	0	0	ENSG00000161664	missense_variant	ENSG00000161664	6,344	ENSG00000267080	263	263	ENSG00000267080	missense_variant	NA	NA
17	44,205,803	A	G	false	3_prime_UTR_variant	917	rs80038530	0.000163		0.065565	54.898	3_prime_UTR_variant	3_prime_UTR_variant	ENSG00000108312	0	ENSG00000108312	1,683	0	ENSG00000108312	3_prime_UTR_variant	ENSG00000108312	5,198	ENSG00000275107	2,035	2,035	ENSG00000275107	3_prime_UTR_variant	NA	NA
17	44,206,926	C	T	false	3_prime_UTR_variant	916	rs117467674	0.000356		0.038518	40.609	3_prime_UTR_variant	3_prime_UTR_variant	ENSG00000108312	0	ENSG00000108312	560	0	ENSG00000108312	3_prime_UTR_variant	ENSG00000108312	4,075	ENSG00000275107	912	912	ENSG00000275107	3_prime_UTR_variant	NA	NA
17	44,244,764	C	A	false	distal	851	rs2079008	0.001957		0.32402	133.19	intergenic_variant	dELS_flank	ENSG00000004939	3,625	ENSG00000267691	14,535	3,625	ENSG00000004939	dELS_flank	ENSG00000108312	23,137	ENSG00000267691	14,535	14,535	ENSG00000267691	distal	NA	NA
17	44,251,636	A	C	true	distal	927	rs13306780	0.96828	Hb	0.2977	101.92	intron_variant	CA-CTCF	ENSG00000004939	47	ENSG00000004939	8,767	47	ENSG00000004939	CA-CTCF	ENSG00000004939	16,497	ENSG00000004939	10,429	10,429	ENSG00000004939	distal	NA	NA
17	44,346,188	C	T	false	5_prime_UTR_variant	888	rs2879096	0.00174		0.25986	68.906	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000030582	0	ENSG00000030582	853	0	ENSG00000030582	5_prime_UTR_variant	ENSG00000030582	882	ENSG00000030582	873	873	ENSG00000030582	5_prime_UTR_variant	NA	NA
17	44,363,800	G	T	false	5_prime_UTR_variant	889	rs568663233	0.002437		0.004333	16.32	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000161682	0	ENSG00000161682	0	0	ENSG00000161682	5_prime_UTR_variant	ENSG00000161682	52	ENSG00000161682	0	0	ENSG00000161682	5_prime_UTR_variant	NA	NA
17	44,366,998	C	G	false	distal	845	rs148040462	0.000191		0.040349	51.844	intergenic_variant	pELS_flank	ENSG00000161682	3,144	ENSG00000267634	1,246	1,246	ENSG00000267634	pELS_flank	ENSG00000161682	3,144	ENSG00000267634	1,246	1,246	ENSG00000267634	distal	NA	NA
17	44,385,686	G	C	false	missense_variant	831	rs76066357	0.008077		0.013121	24.388	missense_variant	missense_variant	ENSG00000005961	0	ENSG00000005961	0	0	ENSG00000005961	missense_variant	ENSG00000005961	345	ENSG00000005961	122	122	ENSG00000005961	missense_variant	NA	NA
17	44,517,387	G	A	true	distal	907	rs150568286	0.99192	Plt	0.01249	24.973	intergenic_variant	intergenic_variant	ENSG00000186566	13,980	ENSG00000186566	13,956	13,956	ENSG00000186566	intergenic_variant	ENSG00000186566	13,980	ENSG00000186566	13,956	13,956	ENSG00000186566	distal	NA	NA
17	44,599,054	G	T	false	distal	862	rs36135500	0.000162		0.47869	264.03	intergenic_variant	dELS_flank	ENSG00000180340	37,791	ENSG00000271222	1,709	1,709	ENSG00000271222	dELS_flank	ENSG00000180340	41,569	ENSG00000271222	2,707	2,707	ENSG00000271222	distal	NA	NA
17	44,666,870	A	C	false	missense_variant	816	rs9907151	0.000128		0.20049	192.18	missense_variant	missense_variant	ENSG00000180336	0	ENSG00000180336	1,351	0	ENSG00000180336	missense_variant	ENSG00000180336	1,751	ENSG00000180336	1,351	1,351	ENSG00000180336	missense_variant	NA	NA
17	44,683,824	G	A	true	distal	849	rs371343848	1	Plt	0.001368	7.2654	intron_variant	dELS_flank	ENSG00000180329	47	ENSG00000180329	47	47	ENSG00000180329	dELS_flank	ENSG00000180329	5,900	ENSG00000180329	5,920	5,900	ENSG00000180329	distal	NA	NA
17	44,707,943	T	C	false	tss_proximal	900	rs77034373	0.00009		0.041611	52.477	upstream_gene_variant	pELS	ENSG00000161692	664	ENSG00000161692	712	664	ENSG00000161692	tss_proximal	ENSG00000161692	664	ENSG00000161692	712	664	ENSG00000161692	tss_proximal	tss_prox:b1	tss_prox:b1
17	44,793,559	T	C	false	tss_proximal	929	rs12946209	0.000295		0.10558	157.96	intron_variant	pELS_flank	ENSG00000182963	4,888	ENSG00000267505	184	184	ENSG00000267505	tss_proximal	ENSG00000182963	11,406	ENSG00000267505	359	359	ENSG00000267505	tss_proximal	tss_prox:b2	tss_prox:b2
17	44,882,514	C	T	false	tss_proximal	925	rs535534047	0.001972		0.001265	17.598	intron_variant	intron_variant	ENSG00000108883	578	ENSG00000108883	578	578	ENSG00000108883	tss_proximal	ENSG00000108883	16,534	ENSG00000108883	670	670	ENSG00000108883	tss_proximal	tss_prox:b2	tss_prox:b1
17	44,882,581	G	A	false	tss_proximal	925	rs569059735	0.000071		0.001207	6.2799	intron_variant	intron_variant	ENSG00000108883	511	ENSG00000108883	511	511	ENSG00000108883	tss_proximal	ENSG00000108883	16,467	ENSG00000108883	737	737	ENSG00000108883	tss_proximal	tss_prox:b2	tss_prox:b1
17	44,904,131	C	T	false	missense_variant	813	rs12937256	0.000351		0.11097	161.11	missense_variant	missense_variant	ENSG00000167131	0	ENSG00000131095	0	0	ENSG00000167131	missense_variant	ENSG00000131095	3,994	ENSG00000131095	3,944	3,944	ENSG00000131095	missense_variant	NA	NA
17	44,906,605	G	A	false	3_prime_UTR_variant	911	rs149058649	0.000222		0.008433	49.638	3_prime_UTR_variant	3_prime_UTR_variant	ENSG00000131095	0	ENSG00000131095	0	0	ENSG00000131095	3_prime_UTR_variant	ENSG00000131095	1,520	ENSG00000131095	1,470	1,470	ENSG00000131095	3_prime_UTR_variant	NA	NA
17	44,936,003	C	A	false	tss_proximal	868	rs142294026	0.000172		0.015149	42.034	intron_variant	CA-H3K4me3	ENSG00000186185	28	ENSG00000278223	1,321	28	ENSG00000186185	tss_proximal	ENSG00000186185	367	ENSG00000278223	1,321	367	ENSG00000186185	tss_proximal	tss_prox:b1	tss_prox:b0
17	44,936,004	C	A	false	tss_proximal	868	rs150826005	0.000167		0.015165	42.037	intron_variant	CA-H3K4me3	ENSG00000186185	27	ENSG00000278223	1,322	27	ENSG00000186185	tss_proximal	ENSG00000186185	366	ENSG00000278223	1,322	366	ENSG00000186185	tss_proximal	tss_prox:b1	tss_prox:b0
17	44,963,190	G	A	false	distal	927	rs3024285	0.000125		0.29826	202.4	intron_variant	CA-CTCF	ENSG00000131094	2,822	ENSG00000289024	13,153	2,822	ENSG00000131094	CA-CTCF	ENSG00000131094	5,112	ENSG00000289024	13,153	5,112	ENSG00000131094	distal	NA	NA
17	45,030,174	G	A	false	missense_variant	836	rs144472327	0.000087		0.002616	42.47	missense_variant	missense_variant	ENSG00000172992	0	ENSG00000172992	0	0	ENSG00000172992	missense_variant	ENSG00000172992	5,373	ENSG00000172992	4	4	ENSG00000172992	missense_variant	NA	NA
17	45,030,403	T	G	false	missense_variant	836	rs187607894	0.000492		0.002151	10.267	missense_variant	missense_variant	ENSG00000172992	0	ENSG00000172992	0	0	ENSG00000172992	missense_variant	ENSG00000172992	5,144	ENSG00000172992	154	154	ENSG00000172992	missense_variant	NA	NA
17	45,105,740	G	A	false	3_prime_UTR_variant	915	rs1053739	0.003351		0.34751	263.99	3_prime_UTR_variant	3_prime_UTR_variant	ENSG00000136448	0	ENSG00000136448	0	0	ENSG00000136448	3_prime_UTR_variant	ENSG00000161714	7,807	ENSG00000136448	95	95	ENSG00000136448	3_prime_UTR_variant	NA	NA
17	45,113,638	T	C	false	tss_proximal	930	rs2285427	0.000661		0.11752	68.341	intron_variant	pELS	ENSG00000161714	32	ENSG00000161714	32	32	ENSG00000161714	tss_proximal	ENSG00000161714	89	ENSG00000277249	794	89	ENSG00000161714	tss_proximal	tss_prox:b0	tss_prox:b0
17	45,138,914	C	T	true	distal	877	rs4986172	0.99828	Height	0.34054	148.81	intron_variant	dELS	ENSG00000181513	106	ENSG00000181513	106	106	ENSG00000181513	dELS	ENSG00000181513	3,219	ENSG00000181513	2,712	2,712	ENSG00000181513	distal	NA	NA
17	45,148,998	T	C	false	5_prime_UTR_variant	887	rs571822086	0.000099		0.008693	52.361	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000186834	0	ENSG00000276728	527	0	ENSG00000186834	5_prime_UTR_variant	ENSG00000186834	522	ENSG00000276728	527	522	ENSG00000186834	5_prime_UTR_variant	NA	NA
17	45,149,123	A	G	false	5_prime_UTR_variant	887	rs559367587	0.000135		0.007336	48.889	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000186834	0	ENSG00000276728	652	0	ENSG00000186834	5_prime_UTR_variant	ENSG00000186834	647	ENSG00000276728	652	647	ENSG00000186834	5_prime_UTR_variant	NA	NA
17	45,226,241	A	G	true	distal	878	rs1906342	0.94808	Lym	0.43841	129.79	intron_variant	dELS	ENSG00000184922	3,987	ENSG00000267121	4,018	3,987	ENSG00000184922	dELS	ENSG00000184922	4,355	ENSG00000267121	4,018	4,018	ENSG00000267121	distal	NA	NA
17	45,255,758	C	T	false	missense_variant	824	rs11651968	0.00951		0.47021	116.75	missense_variant	missense_variant	ENSG00000184361	0	ENSG00000184361	0	0	ENSG00000184361	missense_variant	ENSG00000184361	6,335	ENSG00000267278	733	733	ENSG00000267278	missense_variant	NA	NA
17	45,358,917	C	T	false	distal	920	rs149772258	0.000652		0.003488	69.748	intergenic_variant	CA_flank	ENSG00000159314	34,984	ENSG00000267446	12,484	12,484	ENSG00000267446	CA_flank	ENSG00000006062	41,887	ENSG00000267446	13,139	13,139	ENSG00000267446	distal	NA	NA
17	45,358,932	C	T	false	distal	920	rs532735152	0.000545		0.001267	33.796	intergenic_variant	CA_flank	ENSG00000159314	34,969	ENSG00000267446	12,469	12,469	ENSG00000267446	CA_flank	ENSG00000006062	41,902	ENSG00000267446	13,124	13,124	ENSG00000267446	distal	NA	NA
17	45,359,425	A	G	false	distal	921	rs12944705	0.000351		0.097609	122.33	intergenic_variant	CA_flank	ENSG00000159314	34,476	ENSG00000267446	11,976	11,976	ENSG00000267446	CA_flank	ENSG00000006062	42,395	ENSG00000267446	12,631	12,631	ENSG00000267446	distal	NA	NA
17	45,430,037	G	A	false	synonymous_variant	895	rs7220206	0.005869		0.18549	2,837.6	synonymous_variant	synonymous_variant	ENSG00000159314	0	ENSG00000159314	0	0	ENSG00000159314	synonymous_variant	ENSG00000159314	241	ENSG00000159314	2,311	241	ENSG00000159314	synonymous_variant	NA	NA
17	45,431,944	A	G	false	tss_proximal	902	rs62064652	0.005368		0.18562	2,841	intron_variant	pELS	ENSG00000159314	191	ENSG00000159314	191	191	ENSG00000159314	tss_proximal	ENSG00000159314	925	ENSG00000159314	404	404	ENSG00000159314	tss_proximal	tss_prox:b1	tss_prox:b1
17	45,431,950	C	T	false	tss_proximal	902	rs62064653	0.005259		0.18562	2,841.1	intron_variant	pELS	ENSG00000159314	197	ENSG00000159314	197	197	ENSG00000159314	tss_proximal	ENSG00000159314	919	ENSG00000159314	398	398	ENSG00000159314	tss_proximal	tss_prox:b1	tss_prox:b1
17	45,432,819	G	A	false	5_prime_UTR_variant	889	rs867274046	0.000763		0.004393	20.572	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000159314	0	ENSG00000159314	0	0	ENSG00000159314	5_prime_UTR_variant	ENSG00000159314	50	ENSG00000159314	33	33	ENSG00000159314	5_prime_UTR_variant	NA	NA
17	45,444,995	T	C	false	tss_proximal	902	rs62065378	0.006201		0.18584	2,852.8	intron_variant	dELS_flank	ENSG00000225190	474	ENSG00000225190	474	474	ENSG00000225190	tss_proximal	ENSG00000225190	537	ENSG00000225190	511	511	ENSG00000225190	tss_proximal	tss_prox:b1	tss_prox:b1
17	45,488,233	T	C	false	tss_proximal	902	rs62065444	0.006001		0.18511	2,905.6	intron_variant	dELS_flank	ENSG00000225190	374	ENSG00000225190	370	370	ENSG00000225190	tss_proximal	ENSG00000225190	374	ENSG00000225190	370	370	ENSG00000225190	tss_proximal	tss_prox:b1	tss_prox:b1
17	45,490,678	G	C	false	5_prime_UTR_variant	893	rs577710613	0.000052		0.012567	36.399	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000225190	0	ENSG00000225190	0	0	ENSG00000225190	5_prime_UTR_variant	ENSG00000225190	42	ENSG00000225190	42	42	ENSG00000225190	5_prime_UTR_variant	NA	NA
17	45,491,879	T	A	false	distal	843	rs113322852	0.003727		0.18512	2,904.4	intergenic_variant	pELS_flank	ENSG00000225190	1,120	ENSG00000225190	1,120	1,120	ENSG00000225190	pELS_flank	ENSG00000225190	1,120	ENSG00000225190	1,120	1,120	ENSG00000225190	distal	NA	NA
17	45,747,691	G	C	false	distal	920	rs540003520	0.000004		0.000572	8.401	intergenic_variant	CA_flank	ENSG00000120088	36,588	ENSG00000265964	13,021	13,021	ENSG00000265964	CA_flank	ENSG00000120088	36,588	ENSG00000265964	13,021	13,021	ENSG00000265964	distal	NA	NA
17	45,748,329	G	A	false	distal	920	rs777641530	0.00001		0.000902	5.808	intergenic_variant	CA_flank	ENSG00000120088	35,950	ENSG00000265964	13,659	13,659	ENSG00000265964	CA_flank	ENSG00000120088	35,950	ENSG00000265964	13,659	13,659	ENSG00000265964	distal	NA	NA
17	45,770,137	A	G	false	distal	907	rs116876049	0.000063		0.017375	38.573	intergenic_variant	intergenic_variant	ENSG00000120088	14,142	ENSG00000120088	14,169	14,142	ENSG00000120088	intergenic_variant	ENSG00000120088	14,142	ENSG00000120088	14,169	14,142	ENSG00000120088	distal	NA	NA
17	45,784,397	A	G	false	5_prime_UTR_variant	889	rs553287003	0.000087		0.004634	76.326	5_prime_UTR_variant	5_prime_UTR_variant	ENSG00000120088	0	ENSG00000120088	0	0	ENSG00000120088	5_prime_UTR_variant	ENSG00000120088	76	ENSG00000120088	89	76	ENSG00000120088	5_prime_UTR_variant	NA	NA
17	45,816,518	T	C	false	missense_variant	822	rs8077279	0.000038		0.000102	43.441	missense_variant	missense_variant	ENSG00000263715	0	ENSG00000120088	0	0	ENSG00000263715	missense_variant	ENSG00000120088	16,619	ENSG00000120088	39	39	ENSG00000120088	missense_variant	NA	NA
17	45,817,180	C	G	false	tss_proximal	925	rs75293276	0.000217		0.002942	21.087	intron_variant	dELS	ENSG00000120088	597	ENSG00000120088	597	597	ENSG00000120088	tss_proximal	ENSG00000120088	15,957	ENSG00000120088	621	621	ENSG00000120088	tss_proximal	tss_prox:b2	tss_prox:b1
17	45,920,006	T	C	false	distal	858	rs17649641	0.000554		0.22596	3,783.1	intron_variant	dELS_flank	ENSG00000186868	25,319	ENSG00000262881	9,226	9,226	ENSG00000262881	dELS_flank	ENSG00000186868	25,331	ENSG00000262881	9,226	9,226	ENSG00000262881	distal	NA	NA

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