Variant report

Variant	rs2071203
Chromosome Location	chr3:50311900-50311901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:269)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr3:50311761-50312080	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr3:50311743-50312030	GM12878	blood:	n/a	n/a
3	CTCF	chr3:50311676-50312295	MCF-7	breast:	n/a	n/a
4	CTCF	chr3:50311840-50311990	HMF	breast:	n/a	n/a
5	RAD21	chr3:50311758-50312237	K562	blood:	n/a	n/a
6	CTCF	chr3:50311689-50312050	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr3:50311780-50311930	GM12864	blood:	n/a	n/a
8	E2F4	chr3:50311789-50311992	MCF10A-Er-Src	breast:	n/a	n/a
9	RAD21	chr3:50311774-50312330	A549	lung:	n/a	n/a
10	CTCF	chr3:50311760-50311910	K562	blood:	n/a	n/a
11	CTCF	chr3:50311800-50311950	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr3:50311800-50311950	AG09309	skin:	n/a	n/a
13	SIN3A	chr3:50311732-50312294	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr3:50311704-50312140	K562	blood:	n/a	n/a
15	MAX	chr3:50311774-50312023	K562	blood:	n/a	n/a
16	CTCF	chr3:50311820-50311970	NHLF	lung:	n/a	n/a
17	RUNX3	chr3:50311705-50312055	GM12878	blood:	n/a	n/a
18	CTCF	chr3:50311743-50312008	HepG2	liver:	n/a	n/a
19	CTCF	chr3:50311820-50311970	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr3:50311458-50312426	HCT-116	colon:	n/a	n/a
21	RAD21	chr3:50311687-50312159	MCF-7	breast:	n/a	n/a
22	NRF1	chr3:50311787-50312045	GM12878	blood:	n/a	n/a
23	ZMIZ1	chr3:50311857-50312047	K562	blood:	n/a	n/a
24	RAD21	chr3:50311780-50312241	HepG2	liver:	n/a	n/a
25	E2F6	chr3:50311491-50312098	K562	blood:	n/a	n/a
26	CTCF	chr3:50311736-50311995	ECC-1	luminal epithelium:	n/a	n/a
27	ESRRA	chr3:50311461-50312181	GM12878	blood:	n/a	n/a
28	MAZ	chr3:50311716-50311993	GM12878	blood:	n/a	n/a
29	MAX	chr3:50311674-50312429	H1-hESC	embryonic stem cell:	n/a	n/a
30	ZNF384	chr3:50311840-50312034	K562	blood:	n/a	n/a
31	CTCF	chr3:50311800-50311950	Caco-2	colon:	n/a	n/a
32	CTCF	chr3:50311641-50312234	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr3:50311765-50312223	Fibrobl	skin:	n/a	n/a
34	CTCF	chr3:50311780-50311930	HA-sp	spinal cord:	n/a	n/a
35	EGR1	chr3:50311437-50312305	HCT-116	colon:	n/a	chr3:50311864-50311878
36	TBP	chr3:50311802-50312125	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr3:50311840-50311990	WERI-Rb-1	eye:	n/a	n/a
38	STAT5A	chr3:50311682-50312123	GM12878	blood:	n/a	n/a
39	CTCF	chr3:50311748-50312234	GM19240	blood:	n/a	n/a
40	RAD21	chr3:50311647-50312384	ECC-1	luminal epithelium:	n/a	n/a
41	SP4	chr3:50311670-50312071	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr3:50311286-50313009	SK-N-SH	brain:	n/a	n/a
43	CTCF	chr3:50311780-50311930	GM12871	blood:	n/a	n/a
44	CTCF	chr3:50311760-50311910	HFF-Myc	foreskin:	n/a	n/a
45	FOXM1	chr3:50311773-50312188	GM12878	blood:	n/a	n/a
46	CTCF	chr3:50311800-50311950	RPTEC	kidney:	n/a	n/a
47	PAX5	chr3:50311725-50311984	GM12878	blood:	n/a	n/a
48	CTCF	chr3:50311767-50312240	A549	lung:	n/a	n/a
49	CTCF	chr3:50311757-50312260	GM19239	blood:	n/a	n/a
50	CTCF	chr3:50311688-50311982	A549	lung:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50310426..50313247-chr3:50328333..50331056,2	K562	blood:
2	chr3:50263907..50264961-chr3:50311883..50312727,4	K562	blood:
3	chr3:50311428..50312361-chr3:50358911..50359787,2	K562	blood:
4	chr3:50310332..50311966-chr3:50374071..50376123,2	MCF-7	breast:
5	chr3:50310650..50313903-chr3:50314125..50318251,8	MCF-7	breast:
6	chr3:50262511..50266127-chr3:50309039..50312887,6	K562	blood:
7	chr3:50262511..50265125-chr3:50311115..50313229,2	K562	blood:
8	chr3:50311192..50313650-chr3:50358965..50360786,3	K562	blood:
9	chr3:50309725..50313756-chr3:50357883..50363910,8	K562	blood:
10	chr3:50305234..50312110-chr3:50326257..50332221,8	MCF-7	breast:
11	chr3:50310399..50313142-chr3:50335615..50338582,3	K562	blood:
12	chr3:50303839..50307896-chr3:50307992..50312285,6	K562	blood:
13	chr3:50296030..50318456-chr3:50318822..50339499,66	MCF-7	breast:
14	chr3:50297136..50298055-chr3:50311497..50312548,4	MCF-7	breast:
15	chr3:50307238..50313479-chr3:50353130..50365794,18	MCF-7	breast:
16	chr3:50304620..50307086-chr3:50310040..50312285,3	K562	blood:
17	chr3:50296610..50299539-chr3:50310066..50312117,3	K562	blood:
18	chr3:50300460..50314689-chr3:50349154..50363682,34	MCF-7	breast:
19	chr3:50271706..50275857-chr3:50303511..50313889,17	MCF-7	breast:

No data

Variant related genes	Relation type
LSMEM2	TF binding region
SEMA3B	TF binding region
ENSG00000214706	Chromatin interaction
ENSG00000243477	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000068001	Chromatin interaction
ENSG00000114353	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000179564	Chromatin interaction
ENSG00000114378	Chromatin interaction
ENSG00000230454	Chromatin interaction
ENSG00000114383	Chromatin interaction
ENSG00000186792	Chromatin interaction
ENSG00000232352	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1005678	0.81[CHB][hapmap]
rs11130248	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12054052	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12054403	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12485286	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12485390	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12485909	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12487392	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12488235	0.91[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];0.89[MEX][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12490809	0.90[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12490837	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12492683	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12492880	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12493693	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12494414	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12495261	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12496815	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12497018	0.96[ASN][1000 genomes]
rs12498048	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12629572	0.84[CHD][hapmap];0.82[YRI][hapmap]
rs12632110	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap]
rs12721544	0.88[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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2021734	0.82[AMR][1000 genomes]
rs2071204	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071205	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071801	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071804	0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2072053	0.87[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];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2073497	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2229647	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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];1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2236940	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2236941	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2236943	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236944	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[ASN][1000 genomes]
rs2236946	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2236949	0.88[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2236950	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs2269430	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2269432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2269568	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2269569	0.82[ASN][1000 genomes]
rs2282750	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2282751	0.84[CHD][hapmap]
rs2285043	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298953	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs2298954	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35455589	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35587949	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3774736	0.81[AMR][1000 genomes];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];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774741	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774748	0.88[AMR][1000 genomes]
rs3774752	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.88[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];0.95[ASN][1000 genomes]
rs3774754	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3774755	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4141060	0.81[CHD][hapmap]
rs4141407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688679	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688682	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4688683	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4688724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688725	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4688728	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4688732	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688733	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688734	0.84[ASW][hapmap];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];0.95[ASN][1000 genomes]
rs4688736	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688738	0.90[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];0.95[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4688742	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4688743	0.87[AMR][1000 genomes]
rs4688744	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688746	0.85[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4688747	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57944420	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57978992	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58137261	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58181992	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58191283	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58648044	0.88[ASN][1000 genomes]
rs60276643	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6776145	0.84[CHD][hapmap];0.82[YRI][hapmap]
rs72932959	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72932987	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7645537	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]
rs9311449	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9681992	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9830408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9852677	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs9882618	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883222	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2071203	HEMK1	cis	lymphoblastoid	seeQTL
rs2071203	HEMK	cis	multi-tissue	Pritchard

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50306800-50316000	Weak transcription	Aorta	Aorta
2	chr3:50308800-50316000	Weak transcription	HSMMtube	muscle
3	chr3:50310200-50313800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:50310200-50313800	Bivalent Enhancer	Fetal Thymus	thymus
5	chr3:50310400-50312000	Genic enhancers	HepG2	liver
6	chr3:50310400-50312200	Enhancers	A549	lung
7	chr3:50310400-50312200	Genic enhancers	Hela-S3	cervix
8	chr3:50310400-50312800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr3:50310400-50313800	Enhancers	Spleen	Spleen
10	chr3:50310600-50312200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:50310600-50314600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr3:50310800-50312600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr3:50310800-50312600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
14	chr3:50310800-50312800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr3:50310800-50313600	Bivalent Enhancer	Fetal Stomach	stomach
16	chr3:50310800-50314000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr3:50310800-50314200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr3:50310800-50314200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:50310800-50314400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr3:50310800-50325800	Weak transcription	HSMM	muscle
21	chr3:50311000-50312000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:50311000-50312000	Weak transcription	Left Ventricle	heart
23	chr3:50311000-50312000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr3:50311000-50312200	Enhancers	Adipose Nuclei	Adipose
25	chr3:50311000-50312200	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr3:50311000-50312200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr3:50311000-50312200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:50311000-50312400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr3:50311000-50312400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:50311000-50312600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:50311000-50312600	Bivalent Enhancer	Primary B cells from cord blood	blood
32	chr3:50311000-50312600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:50311000-50312600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:50311000-50312600	Weak transcription	Right Atrium	heart
35	chr3:50311000-50312600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr3:50311000-50312800	Genic enhancers	Fetal Intestine Small	intestine
37	chr3:50311000-50312800	Enhancers	Right Ventricle	heart
38	chr3:50311000-50313000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr3:50311000-50313200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
40	chr3:50311000-50313200	Bivalent Enhancer	HUVEC	blood vessel
41	chr3:50311000-50313200	Weak transcription	NHLF	lung
42	chr3:50311000-50313600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr3:50311000-50313600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
44	chr3:50311000-50313800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr3:50311000-50313800	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr3:50311000-50314000	Enhancers	Liver	Liver
47	chr3:50311000-50314000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr3:50311000-50314400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
49	chr3:50311000-50314600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:50311000-50314600	Bivalent Enhancer	Placenta	Placenta

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