Variant report

Variant	rs6772095
Chromosome Location	chr3:49978069-49978070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr3:49977253-49978291	ECC-1	luminal epithelium:	n/a	n/a
2	MTA3	chr3:49977478-49978298	GM12878	blood:	n/a	n/a
3	E2F6	chr3:49977151-49978185	A549	lung:	n/a	chr3:49977384-49977398 chr3:49977777-49977787
4	POLR2A	chr3:49977412-49978145	GM10847	blood:	n/a	n/a
5	MXI1	chr3:49977300-49978140	K562	blood:	n/a	n/a
6	SP1	chr3:49977106-49978166	GM12878	blood:	n/a	chr3:49977386-49977407
7	POLR2A	chr3:49977220-49978281	HUVEC	blood vessel:	n/a	n/a
8	ETS1	chr3:49977280-49978256	GM12878	blood:	n/a	chr3:49977346-49977359 chr3:49977350-49977357
9	YY1	chr3:49977075-49978130	HepG2	liver:	n/a	n/a
10	GABPA	chr3:49977166-49978076	SK-N-SH	brain:	n/a	chr3:49977455-49977464
11	POLR2A	chr3:49977251-49978181	GM15510	blood:	n/a	n/a
12	POLR2A	chr3:49977314-49978199	ECC-1	luminal epithelium:	n/a	n/a
13	RELA	chr3:49977173-49978228	GM19099	blood:	n/a	n/a
14	YY1	chr3:49977264-49978099	K562	blood:	n/a	n/a
15	POLR2A	chr3:49977167-49978195	HCT-116	colon:	n/a	n/a
16	POLR2A	chr3:49977094-49978298	HUVEC	blood vessel:	n/a	n/a
17	MYC	chr3:49977148-49978130	K562	blood:	n/a	n/a
18	BRCA1	chr3:49977518-49978150	HepG2	liver:	n/a	n/a
19	MAX	chr3:49977128-49978240	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr3:49977158-49978209	GM12878	blood:	n/a	n/a
21	ELF1	chr3:49977152-49978069	MCF-7	breast:	n/a	n/a
22	CREB1	chr3:49977067-49978201	GM12878	blood:	n/a	n/a
23	MXI1	chr3:49977157-49978167	HepG2	liver:	n/a	n/a
24	POLR2A	chr3:49977393-49978136	K562	blood:	n/a	n/a
25	SIN3A	chr3:49977135-49978490	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr3:49977217-49978139	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3A	chr3:49977208-49978437	GM12878	blood:	n/a	n/a
28	POLR2A	chr3:49977400-49978079	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr3:49977184-49978179	GM12892	blood:	n/a	n/a
30	CHD1	chr3:49977859-49978490	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr3:49977194-49978153	K562	blood:	n/a	n/a
32	CREB1	chr3:49977057-49978152	HepG2	liver:	n/a	n/a
33	POLR2A	chr3:49977439-49978104	HCT-116	colon:	n/a	n/a
34	MXI1	chr3:49977229-49978125	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr3:49977176-49978079	K562	blood:	n/a	chr3:49977455-49977464
36	POLR2A	chr3:49977181-49978213	GM12892	blood:	n/a	n/a
37	MAX	chr3:49977054-49978188	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr3:49977193-49978101	A549	lung:	n/a	n/a
39	PAX5	chr3:49977174-49978136	GM12878	blood:	n/a	n/a
40	TAF1	chr3:49977414-49978141	GM12878	blood:	n/a	n/a
41	ZNF263	chr3:49977331-49978158	HEK293-T-REx	kidney:	n/a	n/a
42	YY1	chr3:49977870-49978137	A549	lung:	n/a	n/a
43	CEBPB	chr3:49977877-49978190	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr3:49977246-49978292	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr3:49977098-49978248	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr3:49977150-49978122	NB4	blood:	n/a	n/a
47	MAX	chr3:49977045-49978198	H1-hESC	embryonic stem cell:	n/a	n/a
48	ETS1	chr3:49977162-49978249	GM12878	blood:	n/a	chr3:49977346-49977359 chr3:49977350-49977357
49	POLR2A	chr3:49977147-49978247	Raji	blood:	n/a	n/a
50	POLR2A	chr3:49977068-49978279	HL-60	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
2	chr15:99191647..99192614-chr3:49977517..49978125,2	Hela-S3	cervix:
3	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
4	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:
5	chr3:49935827..49937610-chr3:49975872..49978554,2	K562	blood:
6	chr1:145438159..145439066-chr3:49977309..49978070,2	Hela-S3	cervix:
7	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
8	chr3:49975788..49978611-chr3:50125447..50127862,2	MCF-7	breast:
9	chr3:49823173..49825666-chr3:49976602..49979269,2	MCF-7	breast:
10	chr3:49966310..49967243-chr3:49977434..49978106,2	MCF-7	breast:
11	chr3:49977294..49978117-chr3:52007652..52008341,2	HCT-116	colon:
12	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:

No data

Variant related genes	Relation type
RBM6	TF binding region
ENSG00000140443	Chromatin interaction
ENSG00000114779	Chromatin interaction
ENSG00000248487	Chromatin interaction
ENSG00000230698	Chromatin interaction
ENSG00000176095	Chromatin interaction
ENSG00000272762	Chromatin interaction
ENSG00000164077	Chromatin interaction
ENSG00000117289	Chromatin interaction
ENSG00000003756	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10049087	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs1061474	0.90[CHD][hapmap]
rs1062633	0.93[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11130224	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11130226	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11130229	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11130233	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11130234	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1138536	0.90[CHD][hapmap]
rs11709573	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs11712056	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs11713193	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11713562	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11925192	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12485600	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12496973	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];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12634780	0.82[JPT][hapmap]
rs13060128	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];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1317154	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17657664	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs17657688	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2008877	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs2013208	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap]
rs2230590	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234391	0.83[CHB][hapmap]
rs2240326	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];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs2240327	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap]
rs2240328	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2240329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2245365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2246832	0.83[CHB][hapmap]
rs2247510	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2252833	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];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271960	0.83[CHB][hapmap]
rs2271961	0.83[CHB][hapmap]
rs2280406	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301166	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2352969	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2352974	0.83[CHB][hapmap]
rs2352984	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2353579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353586	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2353587	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2526747	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2526748	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];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2526751	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2526754	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]
rs2624819	0.82[JPT][hapmap]
rs2624821	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2624822	0.82[JPT][hapmap]
rs2624824	0.96[CEU][hapmap]
rs2624826	0.90[CHD][hapmap]
rs2624834	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2624843	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];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2624844	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2624847	0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs2624853	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap]
rs2681778	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2681779	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2681780	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2681781	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2777888	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes]
rs2856234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs2856236	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.93[TSI][hapmap]
rs2856237	0.90[CHD][hapmap]
rs2856238	0.90[CHD][hapmap]
rs2883057	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2883059	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs34080578	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35065728	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3733135	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3774733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3774734	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs3774758	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3774759	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs3796386	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs4688689	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688690	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688753	0.82[JPT][hapmap]
rs4688755	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4688756	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688757	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688758	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55751738	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262093	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446187	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6446189	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6446190	0.86[EUR][1000 genomes]
rs6446193	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];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66851636	0.82[EUR][1000 genomes]
rs6762477	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6765484	0.96[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];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6767381	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6771546	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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774354	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6775384	0.83[CHB][hapmap]
rs6780731	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6792892	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6795703	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6802890	0.83[CHB][hapmap]
rs695238	0.92[CHB][hapmap]
rs7061	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs72942333	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7428430	0.86[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7430334	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs7431106	0.80[CEU][hapmap]
rs7609971	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7613875	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615206	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs7621026	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]
rs7621352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7627864	0.82[JPT][hapmap]
rs7628058	1.00[ASW][hapmap];1.00[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7634084	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634917	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7635002	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7645061	0.83[CHB][hapmap]
rs7648987	0.83[CHB][hapmap]
rs7650214	0.87[EUR][1000 genomes]
rs868891	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs9311446	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs952594	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs9810125	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9814664	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];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9821433	0.87[ASN][1000 genomes]
rs9821675	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9843653	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9848497	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9853222	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9861216	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];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9862795	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9866695	1.00[ASW][hapmap];1.00[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9881008	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	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
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs6772095	RBM6	cis	Whole Blood	GTEx
rs6772095	RBM6	cis	Esophagus Muscularis	GTEx
rs6772095	RBM6	cis	Nerve Tibial	GTEx
rs6772095	CYB561D2	cis	cerebellum	SCAN
rs6772095	RBM6	cis	lymphoblastoid	seeQTL
rs6772095	RBM6	cis	cerebellum	SCAN
rs6772095	RBM6	cis	Esophagus Mucosa	GTEx
rs6772095	RBM6	cis	Adipose Subcutaneous	GTEx
rs6772095	RBM6	cis	Artery Aorta	GTEx
rs6772095	RBM6	cis	Heart Left Ventricle	GTEx
rs6772095	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs6772095	RNF123	cis	cerebellum	SCAN
rs6772095	RBM6	cis	lung	GTEx
rs6772095	ARIH2	cis	cerebellum	SCAN
rs6772095	RBM6	cis	Thyroid	GTEx
rs6772095	RBM6	cis	parietal	SCAN
rs6772095	RBM6	cis	Skin Sun Exposed Lower leg	GTEx
rs6772095	RBM6	cis	Artery Tibial	GTEx
rs6772095	RNF123	cis	parietal	SCAN
rs6772095	RBM6	cis	Stomach	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49977000-49978200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:49977000-49978200	Active TSS	Fetal Brain Female	brain
3	chr3:49977000-49978200	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr3:49977000-49978200	Active TSS	Rectal Smooth Muscle	rectum
5	chr3:49977000-49978400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:49977000-49978400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:49977000-49978400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:49977000-49978400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:49977000-49978400	Active TSS	Brain Cingulate Gyrus	brain
10	chr3:49977000-49978400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:49977000-49978400	Active TSS	Osteobl	bone
12	chr3:49977000-49978600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:49977000-49978600	Active TSS	HSMMtube	muscle
14	chr3:49977000-49978800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr3:49977000-49978800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr3:49977000-49978800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:49977000-49978800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:49977000-49978800	Active TSS	Psoas Muscle	Psoas
19	chr3:49977000-49978800	Active TSS	A549	lung
20	chr3:49977000-49979000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr3:49977200-49978200	Active TSS	Primary T cells from cord blood	blood
22	chr3:49977200-49978200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:49977200-49978200	Active TSS	Fetal Brain Male	brain
24	chr3:49977200-49978200	Active TSS	Fetal Lung	lung
25	chr3:49977200-49978200	Active TSS	Stomach Smooth Muscle	stomach
26	chr3:49977200-49978400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:49977200-49978400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:49977200-49978400	Active TSS	Brain Substantia Nigra	brain
29	chr3:49977200-49978400	Active TSS	Duodenum Mucosa	Duodenum
30	chr3:49977200-49978400	Active TSS	Fetal Kidney	kidney
31	chr3:49977200-49978400	Active TSS	Left Ventricle	heart
32	chr3:49977200-49978400	Active TSS	HUVEC	blood vessel
33	chr3:49977200-49978400	Active TSS	NHEK	skin
34	chr3:49977200-49978600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr3:49977200-49978600	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr3:49977200-49978600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr3:49977200-49978600	Active TSS	Colonic Mucosa	Colon
38	chr3:49977200-49978600	Active TSS	Ovary	ovary
39	chr3:49977200-49978600	Active TSS	Thymus	Thymus
40	chr3:49977200-49978800	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr3:49977200-49978800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr3:49977200-49978800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr3:49977200-49979000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:49977400-49978200	Active TSS	Primary B cells from peripheral blood	blood
45	chr3:49977400-49978200	Active TSS	Primary hematopoietic stem cells	blood
46	chr3:49977400-49978200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:49977400-49978200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:49977400-49978200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr3:49977400-49978200	Active TSS	Adipose Nuclei	Adipose
50	chr3:49977400-49978200	Active TSS	Brain Hippocampus Middle	brain

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