Variant report

Variant	rs7645537
Chromosome Location	chr3:50283437-50283438
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	POLR2A	chr3:50283179-50284442	HL-60	blood:	n/a	n/a
2	CTCF	chr3:50283360-50283510	HepG2	liver:	n/a	n/a
3	MXI1	chr3:50283265-50284518	GM12878	blood:	n/a	chr3:50283955-50283964
4	MAX	chr3:50283296-50284464	A549	lung:	n/a	chr3:50284133-50284143 chr3:50284131-50284140 chr3:50283606-50283616 chr3:50284134-50284143 chr3:50283838-50283847 chr3:50283619-50283628 chr3:50284135-50284142
5	MAZ	chr3:50283280-50284340	GM12878	blood:	n/a	chr3:50284131-50284140 chr3:50283606-50283616 chr3:50284134-50284143 chr3:50283838-50283847 chr3:50283619-50283628 chr3:50284135-50284142
6	RAD21	chr3:50283370-50283988	A549	lung:	n/a	chr3:50283796-50283810 chr3:50283789-50283808 chr3:50283792-50283805 chr3:50283793-50283803
7	SMC3	chr3:50283102-50284075	SK-N-SH	brain:	n/a	chr3:50283799-50283807 chr3:50283952-50283962 chr3:50283793-50283803 chr3:50283793-50283807
8	RAD21	chr3:50283432-50284107	ECC-1	luminal epithelium:	n/a	chr3:50283796-50283810 chr3:50283789-50283808 chr3:50284064-50284078 chr3:50283792-50283805 chr3:50283793-50283803
9	CTCF	chr3:50283320-50283470	GM12873	blood:	n/a	chr3:50283342-50283355
10	TCF12	chr3:50283344-50283917	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBL1XR1	chr3:50283410-50283908	K562	blood:	n/a	n/a
12	SIN3A	chr3:50283278-50284084	H1-hESC	embryonic stem cell:	n/a	chr3:50283539-50283548
13	POLR2A	chr3:50283203-50284504	HCT-116	colon:	n/a	n/a
14	CTCF	chr3:50283224-50283476	GM19238	blood:	n/a	chr3:50283342-50283355
15	TCF7L2	chr3:50283241-50283978	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr3:50283253-50284398	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:50283356-50284437	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:50283217-50284536	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr3:50283218-50284022	K562	blood:	n/a	chr3:50283797-50283806 chr3:50283342-50283355 chr3:50283792-50283808 chr3:50283793-50283806 chr3:50283793-50283806 chr3:50283794-50283804 chr3:50283791-50283809 chr3:50283786-50283807
20	POLR2A	chr3:50282707-50284795	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr3:50283013-50283866	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr3:50283352-50284504	Hela-S3	cervix:	n/a	chr3:50284133-50284143 chr3:50284131-50284140 chr3:50283606-50283616 chr3:50284134-50284143 chr3:50283838-50283847 chr3:50283619-50283628 chr3:50284135-50284142
23	MAX	chr3:50283179-50284357	H1-hESC	embryonic stem cell:	n/a	chr3:50284133-50284143 chr3:50284131-50284140 chr3:50283606-50283616 chr3:50284134-50284143 chr3:50283838-50283847 chr3:50283619-50283628 chr3:50284135-50284142
24	ELF1	chr3:50283107-50284416	GM12878	blood:	n/a	n/a
25	SMARCC1	chr3:50283217-50284449	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr3:50283321-50283822	A549	lung:	n/a	n/a
27	TBP	chr3:50283371-50283880	H1-hESC	embryonic stem cell:	n/a	n/a
28	FOXM1	chr3:50283380-50284116	GM12878	blood:	n/a	n/a
29	NFIC	chr3:50283384-50283986	GM12878	blood:	n/a	n/a
30	POLR2A	chr3:50283195-50284637	GM12878	blood:	n/a	n/a
31	CTCF	chr3:50283300-50283450	GM12873	blood:	n/a	chr3:50283342-50283355
32	CTCF	chr3:50283380-50283530	GM12865	blood:	n/a	n/a
33	YY1	chr3:50283232-50284002	H1-hESC	embryonic stem cell:	n/a	chr3:50283527-50283538 chr3:50283750-50283761
34	CTCF	chr3:50283240-50283493	GM12878	blood:	n/a	chr3:50283342-50283355
35	ZNF143	chr3:50283261-50283977	GM12878	blood:	n/a	chr3:50283467-50283485
36	NFYB	chr3:50283315-50283644	GM12878	blood:	n/a	n/a
37	POLR2A	chr3:50283023-50284737	HUVEC	blood vessel:	n/a	n/a
38	STAT1	chr3:50283242-50284099	GM12878	blood:	n/a	chr3:50283548-50283560 chr3:50283602-50283614
39	MXI1	chr3:50283343-50283526	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr3:50283350-50283961	H1-hESC	embryonic stem cell:	n/a	n/a
41	MTA3	chr3:50283072-50284364	GM12878	blood:	n/a	n/a
42	CTCF	chr3:50283232-50283483	GM12891	blood:	n/a	chr3:50283342-50283355
43	POLR2A	chr3:50283189-50284514	SK-N-MC	brain:	n/a	n/a
44	CTCF	chr3:50283300-50283450	HRPEpiC	eye:	n/a	chr3:50283342-50283355
45	MAZ	chr3:50283300-50284457	K562	blood:	n/a	chr3:50284131-50284140 chr3:50283606-50283616 chr3:50284134-50284143 chr3:50283838-50283847 chr3:50283619-50283628 chr3:50284135-50284142
46	POLR2A	chr3:50283292-50284440	GM12892	blood:	n/a	n/a
47	CTCF	chr3:50283005-50284616	SK-N-SH	brain:	n/a	chr3:50283797-50283806 chr3:50283342-50283355 chr3:50283792-50283808 chr3:50283793-50283806 chr3:50283793-50283806 chr3:50283794-50283804 chr3:50283791-50283809 chr3:50283786-50283807
48	BHLHE40	chr3:50283401-50284359	K562	blood:	n/a	chr3:50283783-50283799
49	SIN3A	chr3:50283410-50284396	GM12878	blood:	n/a	chr3:50283539-50283548
50	JUND	chr3:50283335-50283988	H1-hESC	embryonic stem cell:	n/a	chr3:50283525-50283534

No.	Distal block	Cell Line	Cell type
1	chr3:50281555..50283780-chr3:50291548..50294701,3	MCF-7	breast:
2	chr3:50281584..50285263-chr3:50304924..50308731,5	MCF-7	breast:
3	chr3:50264578..50265080-chr3:50283332..50283926,2	MCF-7	breast:
4	chr3:50264456..50265491-chr3:50283344..50284077,8	MCF-7	breast:
5	chr3:50280753..50283616-chr3:50292547..50295659,3	K562	blood:
6	chr3:50271160..50275227-chr3:50277363..50285143,16	MCF-7	breast:
7	chr3:50283028..50285015-chr3:50286651..50289261,2	MCF-7	breast:
8	chr3:50264006..50266516-chr3:50280953..50285850,5	K562	blood:
9	chr3:50282121..50283856-chr3:50310568..50313113,2	K562	blood:
10	chr3:50281979..50283842-chr3:50328810..50331255,2	K562	blood:
11	chr3:50264455..50265442-chr3:50283162..50284274,5	K562	blood:

Variant related genes	Relation type
GNAI2	TF binding region
ENSG00000114353	Chromatin interaction
ENSG00000214706	Chromatin interaction
ENSG00000012171	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1005678	0.81[CHB][hapmap]
rs11130248	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12054052	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12054403	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12485286	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12485390	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12485909	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12487392	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12488235	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12488302	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12490809	0.90[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12490837	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12492683	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12492880	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12493693	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12494414	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12495261	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12496815	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12497018	0.90[ASN][1000 genomes]
rs12498048	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12629572	0.81[CHD][hapmap]
rs12632110	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs12721544	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1989839	0.81[CHD][hapmap]
rs2006199	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2021734	0.87[AMR][1000 genomes]
rs2071203	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2071204	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2071205	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2071801	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2071804	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2072053	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2072054	0.81[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2073497	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2073499	0.81[CHD][hapmap]
rs2073500	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2229647	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2233474	0.81[CHD][hapmap]
rs2233476	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236940	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2236941	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2236943	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236944	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.98[ASN][1000 genomes]
rs2236946	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236949	0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236950	0.83[JPT][hapmap]
rs2269430	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2269432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2269568	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282750	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282751	0.81[CHD][hapmap]
rs2285043	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2298953	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs2298954	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs2624839	0.86[CHD][hapmap]
rs3213621	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34797487	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs35455589	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35587949	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3774736	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774739	0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774741	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774748	0.92[AMR][1000 genomes]
rs3774752	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3774753	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[ASN][1000 genomes]
rs3774754	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3774755	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4141407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688679	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4688682	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4688683	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4688724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4688725	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688728	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688732	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4688733	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4688734	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688736	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688738	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688741	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688742	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688743	0.91[AMR][1000 genomes]
rs4688744	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688746	0.85[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4688747	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57944420	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57978992	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58137261	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58181992	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58191283	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58648044	0.98[ASN][1000 genomes]
rs60276643	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6776145	0.81[CHD][hapmap]
rs72932959	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72932987	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9311449	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9681992	0.88[AMR][1000 genomes]
rs9830408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9852677	0.86[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.86[ASN][1000 genomes]
rs9882618	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9883222	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 miRNA target site	94 gene(s)	inside rSNPs	diseases
6	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
7	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
8	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	99 gene(s)	inside rSNPs	diseases
11	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	nsv523560	chr3:50172397-50339163	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	53 gene(s)	inside rSNPs	diseases
13	nsv460529	chr3:50178011-50324672	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv460530	chr3:50178011-50324672	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
15	nsv590252	chr3:50178011-50324672	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
16	nsv1002916	chr3:50187646-50311666	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
17	nsv536564	chr3:50187646-50311666	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv1014256	chr3:50187646-50339163	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking 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 miRNA target site	53 gene(s)	inside rSNPs	diseases
19	nsv536565	chr3:50187646-50339163	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
20	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
21	nsv590253	chr3:50196418-50337422	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
22	esv2757870	chr3:50198478-50371377	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
23	esv2759148	chr3:50198478-50371377	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
24	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
25	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
26	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
27	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
28	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7645537	CYB561D2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50276200-50286600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:50276200-50287000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:50276400-50294400	Genic enhancers	Lung	lung
4	chr3:50278600-50287400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:50278800-50286800	Enhancers	NHDF-Ad	bronchial
6	chr3:50279400-50285000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr3:50279400-50285800	Weak transcription	Aorta	Aorta
8	chr3:50281000-50284000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:50281000-50284000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:50281000-50285200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:50282000-50283600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:50282000-50284600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:50282000-50284800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr3:50282200-50284800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr3:50282600-50284600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr3:50282600-50284800	Enhancers	Fetal Heart	heart
17	chr3:50282800-50283600	Flanking Active TSS	Fetal Brain Female	brain
18	chr3:50282800-50283800	Flanking Active TSS	HUVEC	blood vessel
19	chr3:50282800-50284200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr3:50282800-50284200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr3:50282800-50284200	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr3:50282800-50284400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:50282800-50284400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:50282800-50284400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr3:50282800-50284600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:50282800-50284600	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr3:50282800-50284600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr3:50282800-50284800	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr3:50282800-50284800	Flanking Active TSS	Osteobl	bone
30	chr3:50283000-50283600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr3:50283000-50283600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr3:50283000-50283600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr3:50283000-50283800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr3:50283000-50284000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr3:50283000-50284200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr3:50283000-50284200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:50283000-50284200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr3:50283000-50284200	Flanking Active TSS	Right Ventricle	heart
39	chr3:50283000-50284200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr3:50283000-50284200	Flanking Active TSS	HSMM	muscle
41	chr3:50283000-50284400	Flanking Active TSS	Colonic Mucosa	Colon
42	chr3:50283000-50284400	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr3:50283000-50284400	Flanking Active TSS	GM12878-XiMat	blood
44	chr3:50283000-50284400	Flanking Active TSS	Hela-S3	cervix
45	chr3:50283000-50284600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:50283000-50284600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr3:50283000-50284800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr3:50283000-50284800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr3:50283000-50284800	Flanking Active TSS	NH-A	brain
50	chr3:50283000-50285000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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