Variant report

Variant	rs2526754
Chromosome Location	chr3:50125996-50125997
allele	C/T
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	ARID3A	chr3:50125919-50126486	HepG2	liver:	n/a	n/a
2	CBX3	chr3:50125780-50126506	K562	blood:	n/a	n/a
3	POLR2A	chr3:50125946-50126736	PFSK-1	brain:	n/a	n/a
4	PML	chr3:50125858-50127482	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:50125994-50126645	HCT-116	colon:	n/a	n/a
6	POLR2A	chr3:50125981-50127176	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYBL2	chr3:50125866-50126622	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:50125949-50126980	HepG2	liver:	n/a	n/a
9	RCOR1	chr3:50125835-50126393	K562	blood:	n/a	n/a
10	GTF3C2	chr3:50125744-50126311	Hela-S3	cervix:	n/a	n/a
11	RUNX3	chr3:50125868-50126937	GM12878	blood:	n/a	n/a
12	STAT5A	chr3:50125866-50127070	GM12878	blood:	n/a	chr3:50126256-50126276
13	KAP1	chr3:50125982-50126494	U2OS	brain:	n/a	n/a
14	MAX	chr3:50125871-50127282	A549	lung:	n/a	chr3:50126883-50126893
15	MXI1	chr3:50125926-50129106	IMR90	lung:	n/a	n/a
16	MAZ	chr3:50125996-50127571	IMR90	lung:	n/a	chr3:50126883-50126893
17	POLR2A	chr3:50125935-50127022	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr3:50125908-50127095	U87	brain:	n/a	n/a
19	POLR2A	chr3:50125974-50127322	GM12891	blood:	n/a	n/a
20	YY1	chr3:50125892-50127175	GM12878	blood:	n/a	chr3:50126369-50126383 chr3:50126949-50126957 chr3:50126901-50126915 chr3:50126945-50126965 chr3:50126948-50126970 chr3:50126375-50126384
21	TAF1	chr3:50125986-50127303	ECC-1	luminal epithelium:	n/a	n/a
22	CREB1	chr3:50125984-50126631	GM12878	blood:	n/a	n/a
23	BCL3	chr3:50125898-50126550	A549	lung:	n/a	n/a
24	MBD4	chr3:50125910-50126471	HepG2	liver:	n/a	n/a
25	MTA3	chr3:50125950-50127118	GM12878	blood:	n/a	n/a
26	POLR2A	chr3:50125902-50127455	GM12878	blood:	n/a	n/a
27	RUNX3	chr3:50125843-50126853	GM12878	blood:	n/a	n/a
28	YY1	chr3:50125871-50127310	SK-N-SH	brain:	n/a	chr3:50126369-50126383 chr3:50127190-50127199 chr3:50126949-50126957 chr3:50126901-50126915 chr3:50126945-50126965 chr3:50126948-50126970 chr3:50126375-50126384
29	NFIC	chr3:50125884-50126447	HepG2	liver:	n/a	chr3:50126058-50126086
30	JUND	chr3:50125890-50126945	K562	blood:	n/a	chr3:50126881-50126890
31	MYBL2	chr3:50125859-50126885	HepG2	liver:	n/a	n/a
32	GATA2	chr3:50125750-50126077	SH-SY5Y	brain:	n/a	n/a
33	SIX5	chr3:50125925-50126567	A549	lung:	n/a	n/a
34	POLR2A	chr3:50125912-50126705	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr3:50125918-50127158	K562	blood:	n/a	n/a
36	HCFC1	chr3:50125732-50127483	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr3:50125930-50127156	U87	brain:	n/a	n/a
38	REST	chr3:50125982-50126631	A549	lung:	n/a	n/a
39	ETS1	chr3:50125986-50126549	A549	lung:	n/a	chr3:50126327-50126338 chr3:50126253-50126266
40	REST	chr3:50125869-50127740	H1-neurons	neurons:	n/a	chr3:50127483-50127491 chr3:50126752-50126765
41	POLR2A	chr3:50125842-50127218	SK-N-MC	brain:	n/a	n/a
42	NR2F2	chr3:50125963-50126509	K562	blood:	n/a	n/a
43	TCF7L2	chr3:50125910-50126325	Hela-S3	cervix:	n/a	n/a
44	MAX	chr3:50125938-50126978	ECC-1	luminal epithelium:	n/a	chr3:50126883-50126893
45	POLR2A	chr3:50125898-50127400	HUVEC	blood vessel:	n/a	n/a
46	TCF7L2	chr3:50125832-50126454	HCT-116	colon:	n/a	n/a
47	POLR2A	chr3:50125966-50127124	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr3:50125988-50126708	U87	brain:	n/a	n/a
49	RCOR1	chr3:50125871-50126500	HepG2	liver:	n/a	n/a
50	CHD1	chr3:50125809-50128121	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:50125762..50129022-chr3:50137938..50141076,4	K562	blood:
2	chr3:50125097..50128236-chr3:50128554..50131975,3	MCF-7	breast:
3	chr3:49966762..49969614-chr3:50125142..50129125,3	K562	blood:
4	chr3:49966031..49968659-chr3:50125180..50127794,3	K562	blood:
5	chr3:49975788..49978611-chr3:50125447..50127862,2	MCF-7	breast:
6	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:

Variant related genes	Relation type
RBM5	TF binding region
ENSG00000164077	Chromatin interaction
ENSG00000004534	Chromatin interaction
ENSG00000003756	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10049087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061474	0.90[CHD][hapmap]
rs11130228	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11130233	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11130234	0.81[ASN][1000 genomes]
rs1138536	0.90[CHD][hapmap]
rs11709573	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs11713562	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12485600	0.81[ASN][1000 genomes]
rs12496973	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs12634780	0.82[JPT][hapmap]
rs13060128	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17657664	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs17657688	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2008877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2013208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071206	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071207	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2230590	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs2236939	0.82[JPT][hapmap]
rs2240326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240328	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2240329	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245365	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247510	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2252833	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap]
rs2280406	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs2301166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2352969	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2352984	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2353579	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2353587	0.81[AMR][1000 genomes]
rs2526743	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526747	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2526748	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2526751	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2624816	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624819	0.82[JPT][hapmap]
rs2624821	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2624822	0.82[JPT][hapmap]
rs2624823	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2624824	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2624825	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2624826	0.90[CHD][hapmap]
rs2624834	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2624843	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap]
rs2624847	0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2624853	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2681779	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2856234	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2856236	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs2856237	0.90[CHD][hapmap]
rs2856238	0.90[CHD][hapmap]
rs2883057	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs34080578	0.81[ASN][1000 genomes]
rs34831713	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733133	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3774733	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3774734	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs3774759	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs4688686	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4688689	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4688690	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[ASN][1000 genomes]
rs4688753	0.82[JPT][hapmap]
rs4688755	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4688757	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4688758	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[ASN][1000 genomes]
rs6446193	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6446202	0.82[JPT][hapmap]
rs66851636	0.80[ASN][1000 genomes]
rs6762477	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6765484	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs6767381	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6771546	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs6772095	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs6774354	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6780731	0.81[ASN][1000 genomes]
rs6792892	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs7061	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs739431	0.82[JPT][hapmap]
rs7428430	0.86[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7430334	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs7613875	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs7615206	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs7621026	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs7621352	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7627864	0.82[JPT][hapmap]
rs7628058	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7642692	0.82[JPT][hapmap]
rs7642934	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7650214	0.81[ASN][1000 genomes]
rs868891	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs9311446	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9810125	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9814664	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9853222	0.81[ASN][1000 genomes]
rs9856572	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9861216	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9866695	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv460527	chr3:50028385-50153356	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv590249	chr3:50028385-50153356	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv822079	chr3:50116177-50126157	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv822080	chr3:50120789-50126278	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv822081	chr3:50120963-50127117	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv822083	chr3:50123733-50126381	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs2526754	RBM6	cis	lymphoblastoid	seeQTL
rs2526754	RBM6	cis	Esophagus Mucosa	GTEx
rs2526754	RNF123	cis	parietal	SCAN
rs2526754	RBM6	cis	Skin Sun Exposed Lower leg	GTEx
rs2526754	RBM6	cis	Thyroid	GTEx
rs2526754	RBM6	cis	Heart Left Ventricle	GTEx
rs2526754	RBM6	cis	cerebellum	SCAN
rs2526754	RBM6	cis	Adipose Subcutaneous	GTEx
rs2526754	RBM6	cis	lung	GTEx
rs2526754	RBM6	cis	Nerve Tibial	GTEx
rs2526754	RBM6	cis	Whole Blood	GTEx
rs2526754	ARIH2	cis	cerebellum	SCAN
rs2526754	RNF123	cis	cerebellum	SCAN
rs2526754	RBM6	cis	parietal	SCAN
rs2526754	RBM6	cis	Esophagus Muscularis	GTEx
rs2526754	RBM6	cis	Artery Aorta	GTEx
rs2526754	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs2526754	CYB561D2	cis	cerebellum	SCAN
rs2526754	RBM6	cis	Artery Tibial	GTEx
rs2526754	RBM6	cis	Stomach	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50108800-50126000	Weak transcription	Fetal Heart	heart
2	chr3:50110200-50126000	Weak transcription	NHLF	lung
3	chr3:50111000-50126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:50111200-50126200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:50113000-50126000	Weak transcription	NH-A	brain
6	chr3:50113200-50126200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:50113400-50126000	Weak transcription	Fetal Kidney	kidney
8	chr3:50113400-50126000	Weak transcription	Fetal Lung	lung
9	chr3:50113400-50126000	Weak transcription	HSMMtube	muscle
10	chr3:50114600-50126000	Weak transcription	Ovary	ovary
11	chr3:50115400-50126000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:50115600-50126000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:50115600-50126000	Weak transcription	Fetal Stomach	stomach
14	chr3:50115600-50126000	Weak transcription	NHDF-Ad	bronchial
15	chr3:50115600-50126400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:50115800-50126000	Weak transcription	Liver	Liver
17	chr3:50116000-50126000	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:50116400-50126000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:50120800-50126000	Weak transcription	Primary T cells from cord blood	blood
20	chr3:50124000-50126200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:50125200-50126000	Weak transcription	Fetal Brain Male	brain
22	chr3:50125600-50126000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:50125600-50126000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:50125600-50126000	Active TSS	HepG2	liver
25	chr3:50125600-50126200	Flanking Active TSS	Dnd41	blood
26	chr3:50125800-50126000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:50125800-50126000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:50125800-50126000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:50125800-50126000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr3:50125800-50126000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:50125800-50126000	Enhancers	Primary B cells from cord blood	blood
32	chr3:50125800-50126000	Enhancers	Primary B cells from peripheral blood	blood
33	chr3:50125800-50126000	Enhancers	Primary hematopoietic stem cells	blood
34	chr3:50125800-50126000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr3:50125800-50126000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr3:50125800-50126000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:50125800-50126000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:50125800-50126000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr3:50125800-50126000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:50125800-50126000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:50125800-50126000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:50125800-50126000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:50125800-50126000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:50125800-50126000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr3:50125800-50126000	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr3:50125800-50126000	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr3:50125800-50126000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:50125800-50126000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr3:50125800-50126000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr3:50125800-50126000	Enhancers	Fetal Muscle Trunk	muscle

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