Variant report

Variant	rs3213621
Chromosome Location	chr3:50378628-50378629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2B	chr3:50378110-50378645	K562	blood:	n/a	n/a
2	MAX	chr3:50377353-50378896	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:50377316-50379018	PBDE	blood:	n/a	n/a
4	CEBPB	chr3:50378528-50378721	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr3:50377898-50378941	Hela-S3	cervix:	n/a	n/a
6	STAT5A	chr3:50378084-50378972	GM12878	blood:	n/a	chr3:50378442-50378454
7	SP1	chr3:50378198-50378834	GM12878	blood:	n/a	n/a
8	BCLAF1	chr3:50378079-50378878	GM12878	blood:	n/a	chr3:50378439-50378452
9	MAZ	chr3:50377688-50378885	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:50378031-50378744	K562	blood:	n/a	n/a
11	POLR2A	chr3:50378618-50378886	ProgFib	skin:	n/a	n/a
12	SMARCB1	chr3:50377741-50379285	Hela-S3	cervix:	n/a	n/a
13	USF2	chr3:50378601-50378695	GM12878	blood:	n/a	n/a
14	CHD2	chr3:50377796-50378964	GM12878	blood:	n/a	n/a
15	RELA	chr3:50378001-50378876	GM19099	blood:	n/a	n/a
16	HA-E2F1	chr3:50377795-50378763	Hela-S3	cervix:	n/a	chr3:50377830-50377847 chr3:50377833-50377840 chr3:50377833-50377840 chr3:50377833-50377840
17	RELA	chr3:50377556-50378992	GM15510	blood:	n/a	n/a
18	MAX	chr3:50377776-50378738	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZBTB7A	chr3:50378521-50378685	K562	blood:	n/a	n/a
20	POLR2A	chr3:50377742-50378927	GM18951	blood:	n/a	n/a
21	POLR2A	chr3:50377645-50378862	Hela-S3	cervix:	n/a	n/a
22	MXI1	chr3:50377487-50378697	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr3:50378039-50378795	Hela-S3	cervix:	n/a	n/a
24	GABPA	chr3:50378277-50378876	K562	blood:	n/a	n/a
25	MYC	chr3:50377817-50379117	NB4	blood:	n/a	n/a
26	TAF1	chr3:50378553-50378812	Hela-S3	cervix:	n/a	n/a
27	CHD1	chr3:50377764-50378680	GM12878	blood:	n/a	n/a
28	SRF	chr3:50378495-50378828	GM12878	blood:	n/a	n/a
29	POLR2A	chr3:50377282-50378929	GM18505	blood:	n/a	n/a
30	E2F1	chr3:50377785-50378826	Hela-S3	cervix:	n/a	chr3:50377830-50377847 chr3:50377833-50377840 chr3:50377833-50377840 chr3:50377833-50377840
31	POLR2A	chr3:50377719-50378935	GM19193	blood:	n/a	n/a
32	POLR2A	chr3:50377972-50378893	GM12891	blood:	n/a	n/a
33	E2F6	chr3:50377832-50378904	K562	blood:	n/a	chr3:50377833-50377840 chr3:50377833-50377840 chr3:50377833-50377840
34	TCF3	chr3:50377852-50378746	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:50377772-50378886	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr3:50376934-50379464	HL-60	blood:	n/a	n/a
37	E2F6	chr3:50377900-50378751	K562	blood:	n/a	n/a
38	NFYB	chr3:50378425-50378754	GM12878	blood:	n/a	n/a
39	EBF1	chr3:50377885-50378739	GM12878	blood:	n/a	n/a
40	GABPA	chr3:50378367-50378747	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr3:50377808-50378867	GM12892	blood:	n/a	n/a
42	PML	chr3:50377547-50378963	GM12878	blood:	n/a	n/a
43	MYC	chr3:50377848-50378698	K562	blood:	n/a	n/a
44	E2F6	chr3:50377795-50378859	H1-hESC	embryonic stem cell:	n/a	chr3:50377830-50377847 chr3:50377833-50377840 chr3:50377833-50377840 chr3:50377833-50377840
45	POLR2A	chr3:50377182-50379021	GM12892	blood:	n/a	n/a
46	RCOR1	chr3:50377353-50378896	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr3:50378369-50378713	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:50377830-50378824	K562	blood:	n/a	n/a
49	ELF1	chr3:50378429-50378778	K562	blood:	n/a	n/a
50	SMARCC1	chr3:50377519-50379109	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50378611-50378661	CMK	blood:	n/a
2	chr3:50378611-50378661	IMR90	lung:	fetal
3	chr3:50378611-50378661	MCF-7	breast:	n/a
4	chr3:50378611-50378661	SK-N-MC	brain:	n/a
5	chr3:50378611-50378661	MCF10A-Er-Src	breast:	n/a
6	chr3:50378611-50378661	ovcar-3	ovarian:	n/a
7	chr3:50378611-50378661	AG04449	skin:	fetal
8	chr3:50378611-50378661	PrEC	prostate:	n/a
9	chr3:50378611-50378661	PFSK-1	brain:	n/a
10	chr3:50378611-50378661	PANC-1	pancreas:	n/a
11	chr3:50378611-50378661	GM12892	blood:	n/a
12	chr3:50378611-50378661	HCF	heart:	n/a
13	chr3:50378611-50378661	HRE	kidney:	n/a
14	chr3:50378611-50378661	Jurkat	blood:	n/a
15	chr3:50378611-50378661	GM06990	blood:	n/a
16	chr3:50378611-50378661	Caco-2	colon:	n/a
17	chr3:50378611-50378661	NT2-D1	testis:	n/a
18	chr3:50378611-50378661	SKMC	muscle:	n/a
19	chr3:50378611-50378661	HIPEpiC	eye:	n/a
20	chr3:50378611-50378661	HPAEpiC	pulmonary alveolar:	n/a
21	chr3:50378611-50378661	HNPCEpiC	eye:	n/a
22	chr3:50378611-50378661	RPTEC	kidney:	n/a
23	chr3:50378611-50378661	HMEC	breast:	n/a
24	chr3:50378611-50378661	HCPEpiC	choroid plexus:	n/a
25	chr3:50378611-50378661	Hepatocyte	liver:	n/a
26	chr3:50378611-50378661	HEK293	kidney:	embryo
27	chr3:50378611-50378661	BJ	skin:	n/a
28	chr3:50378611-50378661	HRPEpiC	eye:	n/a
29	chr3:50378611-50378661	HEEpiC	esophagus:	n/a
30	chr3:50378611-50378661	GM12891	blood:	n/a
31	chr3:50378611-50378661	HCT-116	colon:	n/a
32	chr3:50378611-50378661	SAEC	small airway:	n/a
33	chr3:50378611-50378661	HAEpiC	amniotic membrane:	n/a
34	chr3:50378611-50378661	K562	blood:	n/a
35	chr3:50378611-50378661	NHBE	bronchial:	n/a
36	chr3:50378611-50378661	AG04450	lung:	fetal
37	chr3:50378611-50378661	NH-A	brain:	n/a
38	chr3:50378611-50378661	ProgFib	skin:	n/a
39	chr3:50378611-50378661	AG09319	gingival:	n/a
40	chr3:50378611-50378661	AG09309	skin:	n/a
41	chr3:50378611-50378661	U87	brain:	n/a
42	chr3:50378611-50378661	SK-N-SH	brain:	n/a
43	chr3:50378611-50378661	HUVEC	blood vessel:	n/a
44	chr3:50378611-50378661	HCM	heart:	n/a
45	chr3:50378611-50378661	AG10803	skin:	n/a
46	chr3:50378611-50378661	Hela-S3	cervix:	n/a
47	chr3:50378611-50378661	BE2_C	brain:	n/a
48	chr3:50378611-50378661	NHDF-neo	bronchial:	n/a
49	chr3:50378611-50378661	SK-N-SH_RA	brain:	n/a
50	chr3:50378611-50378661	AoSMC	blood vessel:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:59055461..59056338-chr3:50378110..50378738,2	Hela-S3	cervix:
2	chr1:205090672..205091353-chr3:50378124..50378806,2	Hela-S3	cervix:
3	chr3:50376891..50380040-chr3:50387225..50390511,3	MCF-7	breast:
4	chr3:50339705..50341283-chr3:50377540..50380265,2	K562	blood:
5	chr3:50336373..50338366-chr3:50377598..50379105,2	K562	blood:
6	chr12:21653898..21654700-chr3:50378179..50378989,2	Hela-S3	cervix:
7	chr3:50373715..50376793-chr3:50377375..50380061,4	MCF-7	breast:
8	chr3:50264037..50266762-chr3:50376102..50379754,3	K562	blood:
9	chr3:50371739..50377775-chr3:50378206..50384768,10	MCF-7	breast:
10	chr3:50359840..50362158-chr3:50378433..50381036,4	MCF-7	breast:
11	chr3:50303166..50306016-chr3:50377616..50380162,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYB561D2-1	chr3:50378537-50378659	ENSG00000235058.1

No data

Variant related genes	Relation type
RASSF1	TF binding region
RASSF1	CpG island
ENSG00000232352	Chromatin interaction
ENSG00000114378	Chromatin interaction
ENSG00000068001	Chromatin interaction
ENSG00000117222	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000130726	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000272104	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000114395	Chromatin interaction
ENSG00000004700	Chromatin interaction
ENSG00000114353	Chromatin interaction
ENSG00000114388	Chromatin interaction
ENSG00000186792	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:103)

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];0.95[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12054052	0.80[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];0.95[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12485286	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12485390	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[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];0.90[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12487392	0.82[EUR][1000 genomes]
rs12488235	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12488302	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12490809	0.90[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12490837	1.00[EUR][1000 genomes]
rs12492683	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12492880	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12493693	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12494414	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12495261	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12496815	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12497018	0.88[ASN][1000 genomes]
rs12498048	0.84[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	1.00[EUR][1000 genomes]
rs1989839	0.80[ASW][hapmap];0.84[CHD][hapmap];0.88[LWK][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes]
rs2006199	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.83[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];0.95[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071204	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071205	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071801	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2071804	0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2072053	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2072054	0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2073497	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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];0.90[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2229647	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2233474	0.84[CHD][hapmap]
rs2233476	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]
rs2236940	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2236941	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2236943	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2236944	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs2236946	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236949	0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236950	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs2236986	0.84[AMR][1000 genomes]
rs2269430	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2269432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2269568	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2269569	0.88[ASN][1000 genomes]
rs2282750	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[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];0.90[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2285044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298953	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.84[ASN][1000 genomes]
rs2298954	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.84[ASN][1000 genomes]
rs2624839	0.84[CHD][hapmap]
rs35455589	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35587949	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[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];0.90[MEX][hapmap];0.82[EUR][1000 genomes]
rs3774741	0.82[EUR][1000 genomes]
rs3774752	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs3774753	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs3774754	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774755	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4141060	0.81[CHD][hapmap]
rs4141407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4688679	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688682	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4688683	0.82[EUR][1000 genomes]
rs4688721	0.83[AMR][1000 genomes]
rs4688724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688725	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688728	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4688732	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4688733	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4688734	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688736	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688738	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688741	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688742	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688744	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4688746	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs4688747	0.82[EUR][1000 genomes]
rs57838764	0.85[AFR][1000 genomes]
rs57944420	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57978992	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58137261	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58181992	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58191283	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58648044	0.83[ASN][1000 genomes]
rs60276643	1.00[EUR][1000 genomes]
rs6776145	0.84[CHD][hapmap]
rs72932959	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72932987	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7645537	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]
rs9311449	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9681992	0.90[AMR][1000 genomes];0.87[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];0.82[MEX][hapmap]
rs9882618	1.00[EUR][1000 genomes]
rs9883222	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv590258	chr3:50368278-50381022	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
21	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
rs3213621	ZMYND10	cis	multi-tissue	Pritchard
rs3213621	HEMK	cis	multi-tissue	Pritchard
rs3213621	CYB561D2	cis	multi-tissue	Pritchard
rs3213621	ZMYND10	cis	lymphoblastoid	seeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50373800-50379200	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr3:50374200-50379000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:50375000-50379600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:50375200-50379000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr3:50375200-50379000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr3:50375200-50379200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr3:50375200-50379200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr3:50375400-50379400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr3:50376000-50380200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:50376600-50378800	Active TSS	K562	blood
11	chr3:50377000-50379000	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr3:50377000-50379000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr3:50377000-50379000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:50377000-50379000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:50377000-50379200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:50377000-50379200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:50377000-50379200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr3:50377000-50379200	Flanking Active TSS	Colonic Mucosa	Colon
19	chr3:50377000-50380200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr3:50377200-50378800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr3:50377200-50378800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:50377200-50379000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr3:50377200-50379000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr3:50377200-50379000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:50377200-50379000	Active TSS	Brain Hippocampus Middle	brain
26	chr3:50377400-50378800	Active TSS	Right Atrium	heart
27	chr3:50377400-50378800	Active TSS	NHDF-Ad	bronchial
28	chr3:50377400-50379400	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr3:50377600-50378800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr3:50377600-50378800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:50377600-50378800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:50377600-50378800	Active TSS	Brain Anterior Caudate	brain
33	chr3:50377600-50378800	Active TSS	Brain Substantia Nigra	brain
34	chr3:50377600-50378800	Bivalent Enhancer	Fetal Brain Male	brain
35	chr3:50377600-50379000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr3:50377600-50379000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:50377600-50379000	Bivalent/Poised TSS	Fetal Kidney	kidney
38	chr3:50377600-50379000	Active TSS	Left Ventricle	heart
39	chr3:50377600-50379200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr3:50377800-50378800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
41	chr3:50377800-50378800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:50377800-50378800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:50377800-50378800	Active TSS	Psoas Muscle	Psoas
44	chr3:50377800-50378800	Active TSS	NHLF	lung
45	chr3:50377800-50379000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr3:50377800-50379200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:50377800-50379200	Active TSS	HSMM	muscle
48	chr3:50377800-50379400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr3:50378000-50378800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr3:50378000-50378800	Enhancers	Fetal Heart	heart

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