Variant report

Variant	rs2532343
Chromosome Location	chr17:44344097-44344098
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:44344027-44344115	K562	blood:	n/a	n/a
2	TCF3	chr17:44344041-44344255	GM12878	blood:	n/a	n/a
3	NRF1	chr17:44343925-44344925	SK-N-SH	brain:	n/a	chr17:44344455-44344469 chr17:44344458-44344469
4	ZBTB7A	chr17:44344003-44344528	K562	blood:	n/a	chr17:44344114-44344123
5	TAF1	chr17:44343972-44344733	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr17:44343602-44345112	Hela-S3	cervix:	n/a	n/a
7	HDAC2	chr17:44343942-44344260	HepG2	liver:	n/a	n/a
8	HEY1	chr17:44343325-44345041	K562	blood:	n/a	n/a
9	POLR2A	chr17:44343461-44344975	K562	blood:	n/a	n/a
10	MYC	chr17:44343254-44344643	H1-hESC	embryonic stem cell:	n/a	chr17:44343780-44343790
11	POLR2A	chr17:44343979-44344285	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr17:44343934-44344972	K562	blood:	n/a	n/a
13	POLR2A	chr17:44343579-44344994	NB4	blood:	n/a	n/a
14	ZBTB33	chr17:44343936-44344682	HCT-116	colon:	n/a	n/a
15	POLR2A	chr17:44343914-44344726	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr17:44343859-44344292	GM12891	blood:	n/a	n/a
17	PAX5	chr17:44343963-44345361	GM12878	blood:	n/a	chr17:44344651-44344660 chr17:44344258-44344267
18	MYC	chr17:44344014-44344384	MCF-7	breast:	n/a	n/a
19	POLR2A	chr17:44343607-44344841	H1-hESC	embryonic stem cell:	n/a	n/a
20	ELF1	chr17:44343955-44344950	GM12878	blood:	n/a	chr17:44344437-44344449
21	TBP	chr17:44343613-44345010	K562	blood:	n/a	n/a
22	POLR2A	chr17:44343448-44344875	HUVEC	blood vessel:	n/a	n/a
23	E2F4	chr17:44344018-44345204	MCF10A-Er-Src	breast:	n/a	chr17:44344508-44344515 chr17:44344459-44344468 chr17:44344508-44344515 chr17:44344508-44344515 chr17:44344255-44344269
24	POLR2A	chr17:44343922-44344342	GM12891	blood:	n/a	n/a
25	TAF1	chr17:44344009-44344745	ECC-1	luminal epithelium:	n/a	n/a
26	BRCA1	chr17:44344000-44344115	Hela-S3	cervix:	n/a	n/a
27	MAX	chr17:44343723-44345055	Hela-S3	cervix:	n/a	chr17:44343780-44343790
28	GTF2F1	chr17:44344064-44344641	K562	blood:	n/a	n/a
29	MTA3	chr17:44343477-44344229	GM12878	blood:	n/a	n/a
30	NFIC	chr17:44343753-44344289	GM12878	blood:	n/a	n/a
31	SMARCB1	chr17:44343601-44345331	Hela-S3	cervix:	n/a	n/a
32	TBP	chr17:44343761-44344921	HepG2	liver:	n/a	n/a
33	EGR1	chr17:44344029-44344455	GM12878	blood:	n/a	chr17:44344112-44344122 chr17:44344110-44344123
34	POLR2A	chr17:44343944-44344642	HCT-116	colon:	n/a	n/a
35	POLR2A	chr17:44343662-44344898	HL-60	blood:	n/a	n/a
36	MAX	chr17:44344036-44344316	MCF-7	breast:	n/a	n/a
37	E2F6	chr17:44343573-44344965	K562	blood:	n/a	chr17:44344508-44344515 chr17:44344459-44344468 chr17:44344508-44344515 chr17:44344508-44344515 chr17:44344255-44344269
38	UBTF	chr17:44344014-44344981	K562	blood:	n/a	n/a
39	SIN3AK20	chr17:44343588-44344253	H1-hESC	embryonic stem cell:	n/a	n/a
40	MTA3	chr17:44343310-44345297	GM12878	blood:	n/a	n/a
41	MAX	chr17:44344006-44344870	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr17:44343498-44345220	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr17:44343950-44344902	A549	lung:	n/a	n/a
44	FOXM1	chr17:44343828-44345290	GM12878	blood:	n/a	n/a
45	PML	chr17:44343799-44344755	K562	blood:	n/a	chr17:44343933-44343941
46	TAF1	chr17:44343933-44344699	GM12878	blood:	n/a	n/a
47	MAX	chr17:44343959-44344823	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr17:44344016-44344247	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr17:44343631-44344677	HEK293	kidney:	n/a	n/a
50	POLR2A	chr17:44343911-44344790	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:43661202..43663303-chr17:44342809..44346012,4	K562	blood:
2	chr17:44268998..44273525-chr17:44341673..44346026,7	K562	blood:
3	chr17:44268896..44271237-chr17:44343151..44346281,5	K562	blood:
4	chr17:44343915..44344828-chr17:61043375..61044215,2	Hela-S3	cervix:
5	chr1:154946305..154946945-chr17:44343963..44344653,2	Hela-S3	cervix:
6	chr17:44343791..44344569-chr6:32939576..32940529,2	Hela-S3	cervix:
7	chr17:44343769..44344373-chr19:48103090..48103773,2	Hela-S3	cervix:
8	chr14:67707799..67708365-chr17:44343216..44344160,2	Hela-S3	cervix:
9	chr17:43661803..43664232-chr17:44342561..44344320,3	K562	blood:

Variant related genes	Relation type
ENSG00000261575	TF binding region
ENSG00000263931	Chromatin interaction
ENSG00000264070	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000214401	Chromatin interaction
ENSG00000072415	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000120071	Chromatin interaction

Extended variants
information (count: 1212 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:364)

rs_ID	r²[population]
rs10221243	1.00[ASN][1000 genomes]
rs10514901	1.00[ASN][1000 genomes]
rs10514903	1.00[ASN][1000 genomes]
rs10514904	1.00[ASN][1000 genomes]
rs11079733	1.00[ASN][1000 genomes]
rs1122380	1.00[ASN][1000 genomes]
rs1122381	1.00[ASN][1000 genomes]
rs12150087	1.00[ASN][1000 genomes]
rs12150319	1.00[ASN][1000 genomes]
rs1358439	1.00[ASN][1000 genomes]
rs1468240	1.00[ASN][1000 genomes]
rs1476554	1.00[ASN][1000 genomes]
rs16940904	1.00[ASN][1000 genomes]
rs1706725	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17576165	1.00[ASN][1000 genomes]
rs17576200	1.00[ASN][1000 genomes]
rs17576631	1.00[ASN][1000 genomes]
rs17576695	1.00[ASN][1000 genomes]
rs17576709	1.00[ASN][1000 genomes]
rs17576779	1.00[ASN][1000 genomes]
rs17576842	1.00[ASN][1000 genomes]
rs17576870	1.00[ASN][1000 genomes]
rs17576954	1.00[ASN][1000 genomes]
rs17576989	1.00[ASN][1000 genomes]
rs17577024	1.00[ASN][1000 genomes]
rs17577052	1.00[ASN][1000 genomes]
rs17577159	1.00[ASN][1000 genomes]
rs17577313	1.00[ASN][1000 genomes]
rs17577369	1.00[ASN][1000 genomes]
rs17577447	1.00[ASN][1000 genomes]
rs17577496	1.00[ASN][1000 genomes]
rs17577650	1.00[ASN][1000 genomes]
rs17577877	1.00[ASN][1000 genomes]
rs17577954	1.00[ASN][1000 genomes]
rs17577975	1.00[ASN][1000 genomes]
rs17659881	1.00[ASN][1000 genomes]
rs17659953	1.00[ASN][1000 genomes]
rs17660017	1.00[ASN][1000 genomes]
rs17660065	1.00[ASN][1000 genomes]
rs17660132	1.00[ASN][1000 genomes]
rs17660167	1.00[ASN][1000 genomes]
rs17660228	1.00[ASN][1000 genomes]
rs17660251	1.00[ASN][1000 genomes]
rs17660294	1.00[ASN][1000 genomes]
rs17660337	1.00[ASN][1000 genomes]
rs17660398	1.00[ASN][1000 genomes]
rs17660464	1.00[ASN][1000 genomes]
rs17660488	1.00[ASN][1000 genomes]
rs17660595	1.00[ASN][1000 genomes]
rs17660847	1.00[ASN][1000 genomes]
rs17660865	1.00[ASN][1000 genomes]
rs17660907	1.00[ASN][1000 genomes]
rs17660936	1.00[ASN][1000 genomes]
rs17661015	1.00[ASN][1000 genomes]
rs17661027	1.00[ASN][1000 genomes]
rs17661045	1.00[ASN][1000 genomes]
rs17661141	1.00[ASN][1000 genomes]
rs17661348	1.00[ASN][1000 genomes]
rs17661385	1.00[ASN][1000 genomes]
rs17661428	1.00[ASN][1000 genomes]
rs17664048	1.00[ASN][1000 genomes]
rs17665188	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819040	1.00[ASN][1000 genomes]
rs1918786	1.00[ASN][1000 genomes]
rs1918787	1.00[ASN][1000 genomes]
rs1918794	1.00[ASN][1000 genomes]
rs1966345	1.00[ASN][1000 genomes]
rs2066899	1.00[ASN][1000 genomes]
rs2097760	1.00[ASN][1000 genomes]
rs2141298	1.00[ASN][1000 genomes]
rs2243967	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2261016	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2262140	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2262144	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2264542	1.00[ASN][1000 genomes]
rs2316954	1.00[ASN][1000 genomes]
rs2316955	1.00[ASN][1000 genomes]
rs2316956	1.00[ASN][1000 genomes]
rs2429438	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429440	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429442	1.00[ASN][1000 genomes]
rs2458216	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2458217	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2458218	1.00[ASN][1000 genomes]
rs2463515	1.00[ASN][1000 genomes]
rs2469914	1.00[ASN][1000 genomes]
rs2469940	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2469941	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2469943	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2469944	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2532229	1.00[ASN][1000 genomes]
rs2532233	1.00[ASN][1000 genomes]
rs2532239	1.00[ASN][1000 genomes]
rs2532244	1.00[ASN][1000 genomes]
rs2532276	1.00[ASN][1000 genomes]
rs2532277	1.00[ASN][1000 genomes]
rs2532307	1.00[ASN][1000 genomes]
rs2532329	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532330	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532331	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2532336	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2532339	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2532340	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532349	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532363	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532411	1.00[ASN][1000 genomes]
rs2532412	1.00[ASN][1000 genomes]
rs2532414	1.00[ASN][1000 genomes]
rs2532416	1.00[ASN][1000 genomes]
rs2532417	1.00[ASN][1000 genomes]
rs2532418	1.00[ASN][1000 genomes]
rs2532419	1.00[ASN][1000 genomes]
rs2532423	1.00[ASN][1000 genomes]
rs2668611	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2668614	1.00[ASN][1000 genomes]
rs2668622	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668626	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2668627	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668645	1.00[ASN][1000 genomes]
rs2668653	1.00[ASN][1000 genomes]
rs2668658	1.00[ASN][1000 genomes]
rs2668662	1.00[ASN][1000 genomes]
rs2668665	1.00[ASN][1000 genomes]
rs2668668	1.00[ASN][1000 genomes]
rs2668670	1.00[ASN][1000 genomes]
rs2668687	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668691	1.00[ASN][1000 genomes]
rs2668692	1.00[ASN][1000 genomes]
rs2668694	1.00[ASN][1000 genomes]
rs2668695	1.00[ASN][1000 genomes]
rs2668713	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668719	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668723	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2696429	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696430	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696445	1.00[ASN][1000 genomes]
rs2696515	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696516	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696517	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2696518	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2696522	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696524	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696525	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2696527	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2696528	1.00[ASN][1000 genomes]
rs2696530	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696531	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696532	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696533	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696534	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696535	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696542	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2696547	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2696551	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2696555	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696559	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696560	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2696561	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696565	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2696566	1.00[ASN][1000 genomes]
rs2696568	1.00[ASN][1000 genomes]
rs2696569	1.00[ASN][1000 genomes]
rs2696608	1.00[ASN][1000 genomes]
rs2696609	1.00[ASN][1000 genomes]
rs2696610	1.00[ASN][1000 genomes]
rs2696617	1.00[ASN][1000 genomes]
rs2696633	1.00[ASN][1000 genomes]
rs2696635	1.00[ASN][1000 genomes]
rs2696673	1.00[ASN][1000 genomes]
rs2732601	1.00[ASN][1000 genomes]
rs2732613	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732619	1.00[ASN][1000 genomes]
rs2732625	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2732628	1.00[ASN][1000 genomes]
rs2732629	1.00[ASN][1000 genomes]
rs2732631	1.00[ASN][1000 genomes]
rs2732649	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732650	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2732651	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2732652	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732654	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2732655	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2732682	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2732683	1.00[ASN][1000 genomes]
rs2732685	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732703	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2732704	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2732705	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732706	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732707	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2732708	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732710	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732711	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2732712	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732713	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732715	1.00[ASN][1000 genomes]
rs2942160	1.00[ASN][1000 genomes]
rs2942175	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2942176	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2942177	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2942178	1.00[ASN][1000 genomes]
rs2950015	0.83[AMR][1000 genomes]
rs2950691	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2950692	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950693	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2950694	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2950706	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2957296	1.00[ASN][1000 genomes]
rs2957297	1.00[ASN][1000 genomes]
rs3087534	1.00[ASN][1000 genomes]
rs3108506	1.00[ASN][1000 genomes]
rs3110331	1.00[ASN][1000 genomes]
rs3110333	1.00[ASN][1000 genomes]
rs34046424	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35524223	1.00[ASN][1000 genomes]
rs36036607	1.00[ASN][1000 genomes]
rs36050210	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36123991	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3865315	1.00[ASN][1000 genomes]
rs3912060	1.00[ASN][1000 genomes]
rs3912061	1.00[ASN][1000 genomes]
rs3912062	1.00[ASN][1000 genomes]
rs3912063	1.00[ASN][1000 genomes]
rs4383188	1.00[ASN][1000 genomes]
rs4471723	1.00[ASN][1000 genomes]
rs4548919	1.00[ASN][1000 genomes]
rs4581739	1.00[ASN][1000 genomes]
rs4630591	1.00[ASN][1000 genomes]
rs55648323	1.00[ASN][1000 genomes]
rs55653937	1.00[ASN][1000 genomes]
rs55669501	1.00[ASN][1000 genomes]
rs55672516	1.00[ASN][1000 genomes]
rs55686102	1.00[ASN][1000 genomes]
rs55692232	1.00[ASN][1000 genomes]
rs55744103	1.00[ASN][1000 genomes]
rs55780786	1.00[ASN][1000 genomes]
rs55790833	1.00[ASN][1000 genomes]
rs55794067	1.00[ASN][1000 genomes]
rs55802590	1.00[ASN][1000 genomes]
rs55825513	1.00[ASN][1000 genomes]
rs55864131	1.00[ASN][1000 genomes]
rs55885063	1.00[ASN][1000 genomes]
rs55900347	1.00[ASN][1000 genomes]
rs55909047	1.00[ASN][1000 genomes]
rs55955207	1.00[ASN][1000 genomes]
rs55972730	1.00[ASN][1000 genomes]
rs55987700	1.00[ASN][1000 genomes]
rs56078347	1.00[ASN][1000 genomes]
rs56100031	1.00[ASN][1000 genomes]
rs56119705	1.00[ASN][1000 genomes]
rs56240678	1.00[ASN][1000 genomes]
rs56257094	1.00[ASN][1000 genomes]
rs56273589	1.00[ASN][1000 genomes]
rs62060812	1.00[ASN][1000 genomes]
rs62060834	1.00[ASN][1000 genomes]
rs62060835	1.00[ASN][1000 genomes]
rs62060836	1.00[ASN][1000 genomes]
rs62060837	1.00[ASN][1000 genomes]
rs62060838	1.00[ASN][1000 genomes]
rs62060839	1.00[ASN][1000 genomes]
rs62060840	1.00[ASN][1000 genomes]
rs62060841	1.00[ASN][1000 genomes]
rs62060842	1.00[ASN][1000 genomes]
rs62060843	1.00[ASN][1000 genomes]
rs62060844	1.00[ASN][1000 genomes]
rs62060845	1.00[ASN][1000 genomes]
rs62060846	1.00[ASN][1000 genomes]
rs62060847	1.00[ASN][1000 genomes]
rs62060850	1.00[ASN][1000 genomes]
rs62060851	1.00[ASN][1000 genomes]
rs62060852	1.00[ASN][1000 genomes]
rs62060853	1.00[ASN][1000 genomes]
rs62060856	1.00[ASN][1000 genomes]
rs62060858	1.00[ASN][1000 genomes]
rs62060859	1.00[ASN][1000 genomes]
rs62060946	1.00[ASN][1000 genomes]
rs62060947	1.00[ASN][1000 genomes]
rs62060952	1.00[ASN][1000 genomes]
rs62061764	1.00[ASN][1000 genomes]
rs62061766	1.00[ASN][1000 genomes]
rs62061767	1.00[ASN][1000 genomes]
rs62061770	1.00[ASN][1000 genomes]
rs62061771	1.00[ASN][1000 genomes]
rs62061772	1.00[ASN][1000 genomes]
rs62061788	1.00[ASN][1000 genomes]
rs62061789	1.00[ASN][1000 genomes]
rs62061790	1.00[ASN][1000 genomes]
rs62061791	1.00[ASN][1000 genomes]
rs62061792	1.00[ASN][1000 genomes]
rs62061793	1.00[ASN][1000 genomes]
rs62061795	1.00[ASN][1000 genomes]
rs62061796	1.00[ASN][1000 genomes]
rs62061798	1.00[ASN][1000 genomes]
rs62061800	1.00[ASN][1000 genomes]
rs62061801	1.00[ASN][1000 genomes]
rs62061802	1.00[ASN][1000 genomes]
rs62061803	1.00[ASN][1000 genomes]
rs62061807	1.00[ASN][1000 genomes]
rs62061808	1.00[ASN][1000 genomes]
rs62061809	1.00[ASN][1000 genomes]
rs62061810	1.00[ASN][1000 genomes]
rs62061811	1.00[ASN][1000 genomes]
rs62061812	1.00[ASN][1000 genomes]
rs62061814	1.00[ASN][1000 genomes]
rs62061815	1.00[ASN][1000 genomes]
rs62061816	1.00[ASN][1000 genomes]
rs62061817	1.00[ASN][1000 genomes]
rs62061818	1.00[ASN][1000 genomes]
rs62061820	1.00[ASN][1000 genomes]
rs62061821	1.00[ASN][1000 genomes]
rs62061822	1.00[ASN][1000 genomes]
rs62061823	1.00[ASN][1000 genomes]
rs62061824	1.00[ASN][1000 genomes]
rs62061845	1.00[ASN][1000 genomes]
rs62061847	1.00[ASN][1000 genomes]
rs62061848	1.00[ASN][1000 genomes]
rs62061849	1.00[ASN][1000 genomes]
rs62061850	1.00[ASN][1000 genomes]
rs62061851	1.00[ASN][1000 genomes]
rs62061852	1.00[ASN][1000 genomes]
rs62061853	1.00[ASN][1000 genomes]
rs62061854	1.00[ASN][1000 genomes]
rs62061855	1.00[ASN][1000 genomes]
rs62061856	1.00[ASN][1000 genomes]
rs62061858	1.00[ASN][1000 genomes]
rs62061859	1.00[ASN][1000 genomes]
rs62063163	1.00[ASN][1000 genomes]
rs62063164	1.00[ASN][1000 genomes]
rs62063165	1.00[ASN][1000 genomes]
rs62063166	1.00[ASN][1000 genomes]
rs62063171	1.00[ASN][1000 genomes]
rs62063172	1.00[ASN][1000 genomes]
rs62063174	1.00[ASN][1000 genomes]
rs62063200	1.00[ASN][1000 genomes]
rs62063201	1.00[ASN][1000 genomes]
rs62063202	1.00[ASN][1000 genomes]
rs62063203	1.00[ASN][1000 genomes]
rs62063207	1.00[ASN][1000 genomes]
rs62063208	1.00[ASN][1000 genomes]
rs62063212	1.00[ASN][1000 genomes]
rs62063234	1.00[ASN][1000 genomes]
rs62070911	1.00[ASN][1000 genomes]
rs62070948	1.00[ASN][1000 genomes]
rs62071576	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62071596	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62071621	1.00[ASN][1000 genomes]
rs62071631	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62071640	1.00[ASN][1000 genomes]
rs62073099	1.00[ASN][1000 genomes]
rs62073152	1.00[ASN][1000 genomes]
rs62073155	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62073156	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073157	0.82[AMR][1000 genomes]
rs62074562	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6503457	1.00[ASN][1000 genomes]
rs7207582	1.00[ASN][1000 genomes]
rs727425	1.00[ASN][1000 genomes]
rs73984689	1.00[ASN][1000 genomes]
rs7502848	1.00[ASN][1000 genomes]
rs8070942	1.00[ASN][1000 genomes]
rs8080583	1.00[ASN][1000 genomes]
rs9303525	1.00[ASN][1000 genomes]
rs9907738	1.00[ASN][1000 genomes]
rs9915547	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817315	chr17:43651731-44351152	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv529777	chr17:43653227-44351644	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1067695	chr17:43655747-44351152	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv529378	chr17:43655747-44351152	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv529778	chr17:43675408-44351152	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv529780	chr17:43706686-44485971	Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv817460	chr17:43706886-44351152	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv529278	chr17:43706886-44694283	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv534157	chr17:43717703-44345038	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv529794	chr17:43717703-44351152	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv948604	chr17:43741452-44364056	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv529795	chr17:43751674-44351152	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
13	nsv949112	chr17:43763241-44364056	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
14	nsv431716	chr17:43893020-44868187	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
15	esv2751685	chr17:44004972-44789317	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv2751686	chr17:44039564-44364056	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
17	nsv431717	chr17:44075901-44809001	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
18	nsv471698	chr17:44079479-44378253	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv431718	chr17:44094463-44873614	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
20	esv2751687	chr17:44094471-44364056	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
21	nsv575144	chr17:44109474-44354796	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
22	nsv516807	chr17:44109474-44793283	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
23	nsv431719	chr17:44111853-44364056	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
24	esv2751688	chr17:44115107-44364056	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
25	nsv431720	chr17:44115107-44364056	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
26	nsv1063349	chr17:44116860-44435442	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
27	esv2753137	chr17:44116950-44353885	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
28	nsv431723	chr17:44118999-44364056	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
29	nsv575149	chr17:44131305-44350090	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
30	nsv575150	chr17:44131305-44354796	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
31	nsv543359	chr17:44132076-44792529	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
32	nsv431726	chr17:44135864-44364056	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
33	esv1792966	chr17:44136000-44422977	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
34	nsv529718	chr17:44138513-44694283	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
35	nsv916230	chr17:44138515-44694311	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
36	esv2751689	chr17:44139662-44364056	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
37	esv2751690	chr17:44139662-44364056	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
38	esv2751691	chr17:44139662-44795190	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
39	esv2751692	chr17:44139662-44811116	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
40	esv2751693	chr17:44139682-44364056	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
41	esv2751694	chr17:44139682-44789285	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
42	esv2751695	chr17:44139682-44801340	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
43	nsv470589	chr17:44140748-44350089	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
44	nsv575152	chr17:44140748-44350090	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
45	nsv908312	chr17:44140748-44354796	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
46	nsv908313	chr17:44140748-44368215	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
47	nsv908314	chr17:44140748-44375017	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
48	nsv908315	chr17:44140748-44788310	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
49	nsv543362	chr17:44141175-44792529	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
50	nsv431728	chr17:44144214-44353885	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2532343	ARHGAP27	Cis_1M	lymphoblastoid	RTeQTL
rs2532343	LRRC37A3	Cis_chr	lymphoblastoid	RTeQTL
rs2532343	LRRC37A4	Cis_1M	lymphoblastoid	RTeQTL
rs2532343	LOC644246	Cis_1M	lymphoblastoid	RTeQTL
rs2532343	ARL17	Cis_1M	lymphoblastoid	RTeQTL
rs2532343	MAPK8IP1	trans	lymphoblastoid	RTeQTL
rs2532343	BPTF	Cis_chr	lymphoblastoid	RTeQTL
rs2532343	LRRC37A4	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44343200-44344200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr17:44343200-44344400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:44343200-44345600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr17:44343400-44344200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr17:44343400-44344200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr17:44343400-44344200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr17:44343400-44344200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr17:44343400-44344200	Flanking Active TSS	Dnd41	blood
9	chr17:44343400-44344200	Flanking Active TSS	Hela-S3	cervix
10	chr17:44343400-44344200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr17:44343400-44344800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr17:44343400-44345200	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr17:44343400-44345200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:44343400-44345200	Active TSS	Fetal Kidney	kidney
15	chr17:44343400-44345400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr17:44343400-44345400	Active TSS	Brain Germinal Matrix	brain
17	chr17:44343600-44344200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:44343600-44344200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:44343600-44344200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr17:44343600-44344200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr17:44343600-44344200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr17:44343600-44344200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:44343600-44344200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr17:44343600-44344200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr17:44343600-44344200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:44343600-44344200	Flanking Active TSS	Placenta	Placenta
27	chr17:44343600-44344200	Flanking Active TSS	A549	lung
28	chr17:44343600-44344200	Flanking Active TSS	GM12878-XiMat	blood
29	chr17:44343600-44344200	Flanking Active TSS	HSMM	muscle
30	chr17:44343600-44344200	Flanking Active TSS	NH-A	brain
31	chr17:44343600-44344800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:44343600-44344800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:44343600-44344800	Flanking Active TSS	Colonic Mucosa	Colon
34	chr17:44343600-44345200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr17:44343600-44345200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr17:44343600-44345200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:44343600-44345200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:44343600-44345200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr17:44343600-44345200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:44343600-44345200	Active TSS	Aorta	Aorta
41	chr17:44343600-44345200	Active TSS	Esophagus	oesophagus
42	chr17:44343600-44345200	Active TSS	Left Ventricle	heart
43	chr17:44343600-44345200	Active TSS	Ovary	ovary
44	chr17:44343600-44345400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr17:44343800-44344200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr17:44343800-44344200	Flanking Active TSS	HMEC	breast
47	chr17:44343800-44344600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr17:44343800-44344600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr17:44343800-44344600	Active TSS	Brain Angular Gyrus	brain
50	chr17:44343800-44344800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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