Variant report

Variant	rs4395639
Chromosome Location	chr5:43286463-43286464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43286127-43286498	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr5:43286021-43286837	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr5:43286219-43288215	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFATC1	chr5:43286321-43287000	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:43284787-43292154	K562	blood:	n/a	n/a
6	POLR2A	chr5:43286213-43289153	K562	blood:	n/a	n/a
7	POLR2A	chr5:43286122-43286999	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:43286280-43286546	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr5:43284759-43289759	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:43285561-43289251	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:43285678-43288190	A549	lung:	n/a	n/a
12	POLR2A	chr5:43284900-43292074	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:43285373-43287718	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr5:43285987-43287626	GM12878	blood:	n/a	n/a
15	FOSL2	chr5:43285542-43288202	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:43285520-43288419	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:43286153-43286541	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:43286182-43288228	PBDE	blood:	n/a	n/a
19	HEY1	chr5:43286042-43288237	HepG2	liver:	n/a	n/a
20	MTA3	chr5:43286157-43286901	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:43286014-43286572	HepG2	liver:	n/a	n/a
22	POLR2A	chr5:43286383-43286575	HepG2	liver:	n/a	n/a
23	MYBL2	chr5:43286063-43286821	HepG2	liver:	n/a	n/a
24	POLR2A	chr5:43286366-43287151	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr5:43286303-43288247	K562	blood:	n/a	n/a
26	POLR2A	chr5:43286268-43288253	K562	blood:	n/a	n/a
27	POLR2A	chr5:43286155-43288219	HL-60	blood:	n/a	n/a
28	POLR2A	chr5:43286190-43289185	HepG2	liver:	n/a	n/a
29	POLR2A	chr5:43285092-43289217	HepG2	liver:	n/a	n/a
30	POLR2A	chr5:43284491-43289202	GM12891	blood:	n/a	n/a
31	POLR2A	chr5:43286110-43288242	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:43286057-43286574	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr5:43286171-43288245	HL-60	blood:	n/a	n/a
34	MBD4	chr5:43285040-43288076	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43284931..43287832-chr5:43292804..43295687,2	MCF-7	breast:
2	chr5:43283692..43287264-chr5:43312626..43315083,3	K562	blood:
3	chr5:43284217..43286645-chr5:43311884..43314498,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261604	TF binding region
ENSG00000112972	Chromatin interaction

Extended variants
information (count: 161 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs10039048	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs10039617	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10065852	0.92[CEU][hapmap]
rs10462047	0.82[EUR][1000 genomes]
rs10462048	0.96[CEU][hapmap];0.81[GIH][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs10512825	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10512827	0.96[CEU][hapmap];0.89[CHB][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10512828	0.96[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10805671	0.92[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs10805672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10805673	0.85[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10805674	0.85[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10805675	0.96[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10941620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941622	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941623	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941628	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10941630	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[YRI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10941631	0.96[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10941632	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11738086	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11739009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11739665	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11740128	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741246	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11741797	0.82[CEU][hapmap];0.89[CHB][hapmap]
rs11742171	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11742712	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11743622	0.92[CEU][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs11743633	0.84[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11746629	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747105	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11747834	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11950040	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11950448	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11951515	1.00[CHB][hapmap]
rs11951584	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11956635	0.96[CEU][hapmap];0.88[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11956936	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11956988	0.96[CEU][hapmap];0.89[CHB][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11960415	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12109933	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12189016	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12189447	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12513864	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12514393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12514399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12515072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12516435	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12517362	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12518032	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12518127	0.96[CEU][hapmap];0.89[CHB][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12519554	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];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520012	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12520895	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12522178	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1545753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1548097	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1564196	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1564197	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1564198	0.92[CEU][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs17244818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs2086133	0.86[EUR][1000 genomes]
rs2126948	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2126949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2169781	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2330150	0.80[EUR][1000 genomes]
rs2330242	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35231094	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35239179	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3733768	0.92[CEU][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs3733769	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3756416	0.82[CEU][hapmap];0.89[CHB][hapmap]
rs4050485	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4288122	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4320264	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4373285	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4443425	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4443426	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4574553	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4591755	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4866734	0.84[EUR][1000 genomes]
rs4866737	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4866738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4866741	0.89[CEU][hapmap]
rs4866813	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4866818	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.84[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap]
rs4866820	0.96[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4866821	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4866822	0.85[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4866824	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4866825	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4866826	0.81[EUR][1000 genomes]
rs55634155	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55647314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55759097	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55759722	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55794239	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55800451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55820064	0.84[ASN][1000 genomes]
rs55939301	0.89[ASN][1000 genomes]
rs55992392	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56023994	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56029402	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56071328	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56114604	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56185290	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56206275	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56331753	0.84[ASN][1000 genomes]
rs57066570	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57392430	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57401732	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58358642	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58679159	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58966636	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59078439	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59625262	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59814709	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60207549	0.82[EUR][1000 genomes]
rs60445501	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61627503	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6451684	0.92[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs66585077	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66691321	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66914803	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67415672	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67497876	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67620667	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67651757	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67817333	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6814	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6863246	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6863360	0.88[EUR][1000 genomes]
rs6867954	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6886499	0.92[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6887351	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6895805	0.88[EUR][1000 genomes]
rs6898398	0.87[EUR][1000 genomes]
rs7380703	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7701391	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7704588	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7708779	1.00[CEU][hapmap];0.80[YRI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7714027	0.96[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7714919	0.87[EUR][1000 genomes]
rs7716091	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7720165	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7720681	0.96[CEU][hapmap];0.89[CHB][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs7722781	0.82[EUR][1000 genomes]
rs7727047	0.92[CEU][hapmap];0.89[CHB][hapmap];0.82[TSI][hapmap]
rs7734293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922439	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs9292871	0.92[CEU][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs9292874	0.81[EUR][1000 genomes]
rs9790987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
4	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4395639	HMGCS1	cis	cerebellum	SCAN
rs4395639	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43274400-43287000	Weak transcription	Left Ventricle	heart
2	chr5:43274600-43286800	Weak transcription	Esophagus	oesophagus
3	chr5:43274800-43286600	Weak transcription	Stomach Mucosa	stomach
4	chr5:43275000-43286600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:43275800-43286800	Weak transcription	Liver	Liver
6	chr5:43275800-43286800	Weak transcription	Gastric	stomach
7	chr5:43276600-43286600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:43277800-43286800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:43280600-43286600	Weak transcription	Brain Substantia Nigra	brain
10	chr5:43280600-43286800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:43280800-43286600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:43281800-43286800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:43282000-43286800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:43282600-43286600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:43282600-43286600	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:43282600-43286800	Weak transcription	Brain Anterior Caudate	brain
17	chr5:43282800-43286600	Weak transcription	Fetal Lung	lung
18	chr5:43282800-43286800	Weak transcription	Primary B cells from cord blood	blood
19	chr5:43282800-43292800	Weak transcription	Hela-S3	cervix
20	chr5:43283000-43286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:43283000-43286800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:43283000-43286800	Weak transcription	Lung	lung
23	chr5:43283200-43286600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:43283400-43286800	Weak transcription	Thymus	Thymus
25	chr5:43283400-43287200	Weak transcription	Aorta	Aorta
26	chr5:43283400-43287600	Weak transcription	NH-A	brain
27	chr5:43283600-43286600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:43283600-43286800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:43283600-43287600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:43283800-43286800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:43283800-43286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:43283800-43286800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:43284000-43286800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:43284000-43286800	Weak transcription	HMEC	breast
35	chr5:43284000-43286800	Weak transcription	NHDF-Ad	bronchial
36	chr5:43284000-43287600	Weak transcription	NHEK	skin
37	chr5:43284200-43286600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:43284200-43286800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:43284200-43287000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:43284200-43294000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:43284200-43309400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:43284400-43286800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:43284400-43287000	Weak transcription	HUVEC	blood vessel
44	chr5:43284400-43287200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:43284600-43286600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr5:43284600-43286800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:43284600-43286800	Weak transcription	Dnd41	blood
48	chr5:43284600-43287800	Weak transcription	HepG2	liver
49	chr5:43284800-43286600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:43284800-43286600	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links