Variant report

Variant	rs2233476
Chromosome Location	chr3:50388383-50388384
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:378)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:50387956-50388516	K562	blood:	n/a	n/a
2	NFIC	chr3:50387813-50388891	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr3:50387957-50388868	HCT-116	colon:	n/a	n/a
4	WRNIP1	chr3:50388093-50388936	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr3:50387793-50388886	SK-N-SH	brain:	n/a	n/a
6	ELF1	chr3:50388064-50388687	K562	blood:	n/a	chr3:50388302-50388311 chr3:50388301-50388312 chr3:50388346-50388358 chr3:50388301-50388312
7	MXI1	chr3:50388021-50388953	K562	blood:	n/a	n/a
8	MXI1	chr3:50387943-50388788	H1-hESC	embryonic stem cell:	n/a	n/a
9	HEY1	chr3:50387968-50388569	K562	blood:	n/a	n/a
10	POLR2A	chr3:50387946-50388492	HepG2	liver:	n/a	n/a
11	TAF1	chr3:50387885-50388560	HepG2	liver:	n/a	n/a
12	YY1	chr3:50388376-50388805	SK-N-SH_RA	brain:	n/a	n/a
13	ELK1	chr3:50388023-50388742	Hela-S3	cervix:	n/a	n/a
14	ELF1	chr3:50387977-50388829	HepG2	liver:	n/a	chr3:50388302-50388311 chr3:50388301-50388312 chr3:50388346-50388358 chr3:50388301-50388312
15	CREB1	chr3:50388008-50388718	A549	lung:	n/a	n/a
16	POLR2A	chr3:50387830-50388930	K562	blood:	n/a	n/a
17	ELF1	chr3:50388108-50388736	HepG2	liver:	n/a	chr3:50388302-50388311 chr3:50388301-50388312 chr3:50388346-50388358 chr3:50388301-50388312
18	POLR2A	chr3:50387933-50388960	NB4	blood:	n/a	n/a
19	POLR2A	chr3:50387742-50389033	GM18505	blood:	n/a	n/a
20	POLR2A	chr3:50387717-50389490	PBDE	blood:	n/a	n/a
21	STAT5A	chr3:50387499-50389265	GM12878	blood:	n/a	chr3:50388275-50388282 chr3:50389062-50389071 chr3:50389063-50389071 chr3:50389057-50389077 chr3:50389063-50389072 chr3:50389018-50389030 chr3:50389057-50389077 chr3:50389014-50389022
22	TAL1	chr3:50388380-50388780	K562	blood:	n/a	n/a
23	MAX	chr3:50387742-50388936	MCF-7	breast:	n/a	n/a
24	NR2C2	chr3:50388089-50388699	HepG2	liver:	n/a	n/a
25	ATF3	chr3:50388345-50388722	HepG2	liver:	n/a	n/a
26	POLR2A	chr3:50387963-50388505	GM12891	blood:	n/a	n/a
27	EP300	chr3:50387986-50388665	GM12878	blood:	n/a	chr3:50388304-50388311
28	RELA	chr3:50387676-50388760	GM15510	blood:	n/a	n/a
29	TBL1XR1	chr3:50388167-50388666	K562	blood:	n/a	n/a
30	EP300	chr3:50387646-50388760	HepG2	liver:	n/a	chr3:50388304-50388311
31	POLR2A	chr3:50387957-50388824	K562	blood:	n/a	n/a
32	POU2F2	chr3:50387918-50388686	GM12891	blood:	n/a	chr3:50388514-50388525
33	ATF3	chr3:50388093-50388755	GM12878	blood:	n/a	n/a
34	HA-E2F1	chr3:50388041-50388890	MCF-7	breast:	n/a	chr3:50388338-50388353
35	SIN3AK20	chr3:50388157-50388842	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr3:50388118-50388644	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr3:50387944-50388844	ECC-1	luminal epithelium:	n/a	n/a
38	ETS1	chr3:50388019-50388759	GM12878	blood:	n/a	chr3:50388303-50388312 chr3:50388273-50388287 chr3:50388577-50388590 chr3:50388304-50388314 chr3:50388508-50388521 chr3:50388303-50388312
39	JUN	chr3:50388171-50388720	K562	blood:	n/a	n/a
40	E2F4	chr3:50387993-50388815	GM12878	blood:	n/a	chr3:50388338-50388353
41	E2F6	chr3:50387726-50388713	H1-hESC	embryonic stem cell:	n/a	chr3:50388338-50388353
42	TBP	chr3:50387940-50388700	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr3:50387768-50388414	A549	lung:	n/a	chr3:50388338-50388353
44	CEBPD	chr3:50388037-50388600	HepG2	liver:	n/a	n/a
45	POLR2A	chr3:50387879-50389481	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr3:50387756-50388987	HL-60	blood:	n/a	n/a
47	GTF2F1	chr3:50387885-50388922	Hela-S3	cervix:	n/a	n/a
48	YY1	chr3:50387897-50388701	GM12892	blood:	n/a	n/a
49	POLR2A	chr3:50387963-50388702	K562	blood:	n/a	n/a
50	POLR2A	chr3:50387936-50388981	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50388344-50388394	HL-60	blood:	n/a
2	chr3:50388344-50388394	A549	lung:	n/a
3	chr3:50388344-50388394	LNCaP	prostate:	n/a
4	chr3:50388344-50388394	IMR90	lung:	fetal
5	chr3:50388344-50388394	NB4	blood:	n/a
6	chr3:50388344-50388394	MCF10A-Er-Src	breast:	n/a
7	chr3:50388344-50388394	SK-N-MC	brain:	n/a
8	chr3:50388344-50388394	NHDF-neo	bronchial:	n/a
9	chr3:50388344-50388394	HCM	heart:	n/a
10	chr3:50388344-50388394	HCPEpiC	choroid plexus:	n/a
11	chr3:50388344-50388394	CMK	blood:	n/a
12	chr3:50388344-50388394	Jurkat	blood:	n/a
13	chr3:50388344-50388394	AG04449	skin:	fetal
14	chr3:50388344-50388394	NHBE	bronchial:	n/a
15	chr3:50388344-50388394	NH-A	brain:	n/a
16	chr3:50388344-50388394	NT2-D1	testis:	n/a
17	chr3:50388344-50388394	HUVEC	blood vessel:	n/a
18	chr3:50388344-50388394	HPAEpiC	pulmonary alveolar:	n/a
19	chr3:50388344-50388394	SK-N-SH	brain:	n/a
20	chr3:50388344-50388394	GM12892	blood:	n/a
21	chr3:50388344-50388394	Caco-2	colon:	n/a
22	chr3:50388344-50388394	K562	blood:	n/a
23	chr3:50388344-50388394	AG10803	skin:	n/a
24	chr3:50388344-50388394	T-47D	breast:	n/a
25	chr3:50388344-50388394	ovcar-3	ovarian:	n/a
26	chr3:50388344-50388394	HepG2	liver:	n/a
27	chr3:50388344-50388394	H1-hESC	embryonic stem cell:	embryo
28	chr3:50388344-50388394	GM12878	blood:	n/a
29	chr3:50388344-50388394	HCF	heart:	n/a
30	chr3:50388344-50388394	PFSK-1	brain:	n/a
31	chr3:50388344-50388394	ProgFib	skin:	n/a
32	chr3:50388344-50388394	HRPEpiC	eye:	n/a
33	chr3:50388344-50388394	GM12891	blood:	n/a
34	chr3:50388344-50388394	Hela-S3	cervix:	n/a
35	chr3:50388344-50388394	AG04450	lung:	fetal
36	chr3:50388344-50388394	AG09309	skin:	n/a
37	chr3:50388344-50388394	AG09319	gingival:	n/a
38	chr3:50388344-50388394	SK-N-SH_RA	brain:	n/a
39	chr3:50388344-50388394	U87	brain:	n/a
40	chr3:50388344-50388394	Hepatocyte	liver:	n/a
41	chr3:50388344-50388394	AoSMC	blood vessel:	n/a
42	chr3:50388344-50388394	PrEC	prostate:	n/a
43	chr3:50388344-50388394	RPTEC	kidney:	n/a
44	chr3:50388344-50388394	HAEpiC	amniotic membrane:	n/a
45	chr3:50388344-50388394	SAEC	small airway:	n/a
46	chr3:50388344-50388394	GM19239	blood:	n/a
47	chr3:50388344-50388394	PANC-1	pancreas:	n/a
48	chr3:50388344-50388394	HNPCEpiC	eye:	n/a
49	chr3:50388344-50388394	HRE	kidney:	n/a
50	chr3:50388344-50388394	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:50364156..50366133-chr3:50386766..50389569,2	MCF-7	breast:
2	chr1:149223416..149224452-chr3:50387919..50388599,3	HCT-116	colon:
3	chr10:70091655..70092326-chr3:50387628..50388415,2	NB4	blood:
4	chr3:50365306..50367781-chr3:50387742..50389755,3	MCF-7	breast:
5	chr3:50381268..50383319-chr3:50387134..50389655,3	MCF-7	breast:
6	chr3:50303783..50306378-chr3:50387690..50389658,2	MCF-7	breast:
7	chr3:50388042..50391116-chr3:50401183..50404211,3	K562	blood:
8	chr3:50384788..50386496-chr3:50388096..50390372,2	MCF-7	breast:
9	chr3:50387814..50389880-chr3:50646553..50649326,2	MCF-7	breast:
10	chr3:50373346..50376603-chr3:50387024..50392661,8	MCF-7	breast:
11	chr3:50386112..50390194-chr3:50392847..50399521,11	MCF-7	breast:
12	chr3:50376891..50380040-chr3:50387225..50390511,3	MCF-7	breast:

No data

Variant related genes	Relation type
CYB561D2	TF binding region
NPRL2	TF binding region
ZMYND10	TF binding region
CYB561D2	CpG island
ZMYND10	CpG island
NPRL2	CpG island
ENSG00000271858	Chromatin interaction
ENSG00000007402	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000114737	Chromatin interaction
ENSG00000126062	Chromatin interaction
ENSG00000114738	Chromatin interaction
ENSG00000096746	Chromatin interaction
ENSG00000004838	Chromatin interaction
ENSG00000232352	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000114388	Chromatin interaction
ENSG00000235058	Chromatin interaction
ENSG00000114383	Chromatin interaction
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1005678	0.81[CHB][hapmap]
rs11130248	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12054052	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12054403	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12485286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12485390	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12485909	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12487392	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12488235	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12488302	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12490809	0.90[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12490837	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12492683	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12492880	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12493693	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12494414	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12495261	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12496815	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12497018	0.89[ASN][1000 genomes]
rs12498048	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12629572	0.84[CHD][hapmap]
rs12632110	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap]
rs12721544	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1989839	0.84[CHD][hapmap]
rs2006199	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2071203	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2071204	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071205	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071801	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071804	0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072053	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2072054	0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.82[EUR][1000 genomes]
rs2073497	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073499	0.84[CHD][hapmap]
rs2073500	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2229647	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2233474	0.84[CHD][hapmap]
rs2233482	0.97[AFR][1000 genomes]
rs2236940	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2236941	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2236943	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236944	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs2236946	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[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236949	0.88[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236950	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs2236986	0.85[AMR][1000 genomes]
rs2269430	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2269432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2269568	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2269569	0.89[ASN][1000 genomes]
rs2282750	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2282751	0.84[CHD][hapmap]
rs2285043	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2285044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298953	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.85[ASN][1000 genomes]
rs2298954	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.85[ASN][1000 genomes]
rs2624839	0.84[CHD][hapmap]
rs3213621	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35455589	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35587949	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3774736	0.82[EUR][1000 genomes]
rs3774739	0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774741	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774748	0.81[AMR][1000 genomes]
rs3774752	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774753	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[ASN][1000 genomes]
rs3774754	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3774755	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];0.99[ASN][1000 genomes]
rs4141060	0.81[CHD][hapmap]
rs4141407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688679	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688682	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688683	0.82[EUR][1000 genomes]
rs4688721	0.87[AMR][1000 genomes]
rs4688724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688725	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688728	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688732	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688733	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688734	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688736	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4688738	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688741	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]
rs4688742	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4688744	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688746	0.85[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4688747	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57944420	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57978992	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58137261	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58181992	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58191283	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58648044	0.84[ASN][1000 genomes]
rs59476380	0.89[AFR][1000 genomes]
rs59556423	0.91[AFR][1000 genomes]
rs60276643	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60983897	0.84[AFR][1000 genomes]
rs61737738	0.90[AFR][1000 genomes]
rs6776145	0.84[CHD][hapmap]
rs72932956	0.90[AFR][1000 genomes]
rs72932959	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72932962	0.91[AFR][1000 genomes]
rs72932964	0.91[AFR][1000 genomes]
rs72932983	0.91[AFR][1000 genomes]
rs72932987	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7611074	0.87[YRI][hapmap]
rs7645537	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]
rs928946	0.91[AFR][1000 genomes]
rs9311449	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9681992	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9830408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9852677	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs9882618	1.00[EUR][1000 genomes]
rs9883222	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
17	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
18	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
19	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
20	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2233476	HEMK	cis	multi-tissue	Pritchard
rs2233476	CYB561D2	cis	multi-tissue	Pritchard
rs2233476	ZMYND10	cis	multi-tissue	Pritchard
rs2233476	ZMYND10	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50386800-50388600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:50387000-50389400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr3:50387200-50388400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:50387200-50389200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr3:50387200-50389200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr3:50387200-50389200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:50387400-50388800	Active TSS	Ovary	ovary
8	chr3:50387400-50389000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:50387400-50389000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr3:50387400-50389000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:50387400-50389000	Active TSS	HSMMtube	muscle
12	chr3:50387400-50389200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr3:50387400-50389200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr3:50387400-50389200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:50387400-50389200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr3:50387400-50389400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:50387600-50388600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr3:50387600-50388600	Active TSS	Gastric	stomach
19	chr3:50387600-50388600	Active TSS	Lung	lung
20	chr3:50387600-50388800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr3:50387600-50388800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:50387600-50388800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:50387600-50388800	Active TSS	Aorta	Aorta
24	chr3:50387600-50388800	Active TSS	Psoas Muscle	Psoas
25	chr3:50387600-50388800	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr3:50387600-50388800	Active TSS	K562	blood
27	chr3:50387600-50389000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr3:50387600-50389400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr3:50387800-50388600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr3:50387800-50388600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr3:50387800-50388600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:50387800-50388600	Active TSS	Brain Angular Gyrus	brain
33	chr3:50387800-50388600	Active TSS	Brain Anterior Caudate	brain
34	chr3:50387800-50388600	Active TSS	Brain Cingulate Gyrus	brain
35	chr3:50387800-50388600	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr3:50387800-50388600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr3:50387800-50388600	Active TSS	Fetal Brain Female	brain
38	chr3:50387800-50388600	Active TSS	Fetal Kidney	kidney
39	chr3:50387800-50388800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:50387800-50388800	Active TSS	Brain Hippocampus Middle	brain
41	chr3:50387800-50388800	Active TSS	Fetal Heart	heart
42	chr3:50387800-50388800	Active TSS	NHDF-Ad	bronchial
43	chr3:50387800-50389000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:50387800-50389000	Active TSS	Small Intestine	intestine
45	chr3:50388000-50388400	Active TSS	Primary T cells from cord blood	blood
46	chr3:50388000-50388400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:50388000-50388400	Transcr. at gene 5' and 3'	Right Atrium	heart
48	chr3:50388000-50388600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:50388000-50388600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:50388000-50388600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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