Variant report

Variant	rs12488302
Chromosome Location	chr3:50341326-50341327
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	chr3:50340246-50341385	K562	blood:	n/a	n/a
2	POLR2A	chr3:50340726-50341355	HCT-116	colon:	n/a	n/a
3	POLR2A	chr3:50339436-50341410	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:50340505-50341433	HCT-116	colon:	n/a	n/a
5	MAX	chr3:50339747-50341427	HepG2	liver:	n/a	chr3:50341173-50341183
6	TAF1	chr3:50340235-50341359	HepG2	liver:	n/a	n/a
7	SP1	chr3:50340275-50341339	HepG2	liver:	n/a	chr3:50341068-50341080 chr3:50341149-50341158 chr3:50341148-50341160 chr3:50341229-50341243 chr3:50341068-50341080 chr3:50341148-50341160 chr3:50341148-50341159 chr3:50341172-50341184 chr3:50341058-50341067 chr3:50341150-50341159 chr3:50341070-50341079 chr3:50341149-50341159 chr3:50341172-50341184 chr3:50341173-50341183 chr3:50341172-50341183 chr3:50340474-50340488 chr3:50341149-50341159 chr3:50341145-50341159
8	POLR2A	chr3:50340232-50341393	Hela-S3	cervix:	n/a	n/a
9	USF2	chr3:50341084-50341383	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:50340778-50341347	K562	blood:	n/a	n/a
11	MAX	chr3:50340430-50341381	Hela-S3	cervix:	n/a	chr3:50341173-50341183
12	YY1	chr3:50340132-50341423	HepG2	liver:	n/a	n/a
13	CHD2	chr3:50341085-50341345	K562	blood:	n/a	n/a
14	POLR2A	chr3:50340540-50341336	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPD	chr3:50340150-50341408	HepG2	liver:	n/a	n/a
16	POLR2A	chr3:50339443-50341454	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:50340163-50341346	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:50340365-50341390	K562	blood:	n/a	n/a
19	MAZ	chr3:50340392-50341352	K562	blood:	n/a	chr3:50341173-50341183
20	POLR2A	chr3:50340655-50341343	Hela-S3	cervix:	n/a	n/a
21	USF1	chr3:50341198-50341453	K562	blood:	n/a	n/a
22	TBP	chr3:50340581-50341345	K562	blood:	n/a	n/a
23	CHD2	chr3:50340526-50341345	Hela-S3	cervix:	n/a	n/a
24	MAX	chr3:50340953-50341489	K562	blood:	n/a	chr3:50341173-50341183
25	MAZ	chr3:50340476-50341330	Hela-S3	cervix:	n/a	chr3:50341173-50341183
26	MYBL2	chr3:50340325-50341365	HepG2	liver:	n/a	n/a
27	HEY1	chr3:50340056-50341376	HepG2	liver:	n/a	n/a
28	ZBTB7A	chr3:50340915-50341336	K562	blood:	n/a	chr3:50341068-50341075
29	HEY1	chr3:50340146-50341486	HepG2	liver:	n/a	n/a
30	TAF1	chr3:50340128-50341327	HepG2	liver:	n/a	n/a
31	POLR2A	chr3:50340179-50341417	HepG2	liver:	n/a	n/a
32	POLR2A	chr3:50340091-50341345	K562	blood:	n/a	n/a
33	SMARCB1	chr3:50339518-50341326	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr3:50340098-50341410	HepG2	liver:	n/a	n/a
35	TBP	chr3:50340289-50341353	HepG2	liver:	n/a	n/a
36	POLR2A	chr3:50335462-50341765	HepG2	liver:	n/a	n/a
37	ZBTB7A	chr3:50340932-50341374	HepG2	liver:	n/a	chr3:50341068-50341075
38	POLR2A	chr3:50340186-50341469	K562	blood:	n/a	n/a
39	MXI1	chr3:50340965-50341344	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr3:50339719-50341388	HepG2	liver:	n/a	n/a
41	MYC	chr3:50340378-50341406	K562	blood:	n/a	chr3:50341173-50341183
42	SP1	chr3:50340906-50341365	H1-hESC	embryonic stem cell:	n/a	chr3:50341068-50341080 chr3:50341149-50341158 chr3:50341148-50341160 chr3:50341229-50341243 chr3:50341068-50341080 chr3:50341148-50341160 chr3:50341148-50341159 chr3:50341172-50341184 chr3:50341058-50341067 chr3:50341150-50341159 chr3:50341070-50341079 chr3:50341149-50341159 chr3:50341172-50341184 chr3:50341173-50341183 chr3:50341172-50341183 chr3:50341149-50341159 chr3:50341145-50341159
43	POLR2A	chr3:50339328-50341436	HepG2	liver:	n/a	n/a
44	SIN3A	chr3:50341086-50341362	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr3:50339429-50341414	HepG2	liver:	n/a	chr3:50341173-50341183
46	MYC	chr3:50340424-50341370	K562	blood:	n/a	chr3:50341173-50341183
47	MXI1	chr3:50339958-50341368	HepG2	liver:	n/a	n/a
48	POLR2A	chr3:50339957-50341407	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50341293-50341343	HCF	heart:	n/a
2	chr3:50341293-50341343	AG04450	lung:	fetal
3	chr3:50341293-50341343	HPAEpiC	pulmonary alveolar:	n/a
4	chr3:50341293-50341343	ovcar-3	ovarian:	n/a
5	chr3:50341293-50341343	SK-N-SH_RA	brain:	n/a
6	chr3:50341293-50341343	SAEC	small airway:	n/a
7	chr3:50341293-50341343	Jurkat	blood:	n/a
8	chr3:50341293-50341343	NH-A	brain:	n/a
9	chr3:50341293-50341343	RPTEC	kidney:	n/a
10	chr3:50341293-50341343	BE2_C	brain:	n/a
11	chr3:50341293-50341343	LNCaP	prostate:	n/a
12	chr3:50341293-50341343	HL-60	blood:	n/a
13	chr3:50341293-50341343	MCF10A-Er-Src	breast:	n/a
14	chr3:50341293-50341343	HCM	heart:	n/a
15	chr3:50341293-50341343	H1-hESC	embryonic stem cell:	embryo
16	chr3:50341293-50341343	U87	brain:	n/a
17	chr3:50341293-50341343	Hepatocyte	liver:	n/a
18	chr3:50341293-50341343	Caco-2	colon:	n/a
19	chr3:50341293-50341343	A549	lung:	n/a
20	chr3:50341293-50341343	HIPEpiC	eye:	n/a
21	chr3:50341293-50341343	HUVEC	blood vessel:	n/a
22	chr3:50341293-50341343	AG09319	gingival:	n/a
23	chr3:50341293-50341343	HCPEpiC	choroid plexus:	n/a
24	chr3:50341293-50341343	HCT-116	colon:	n/a
25	chr3:50341293-50341343	NHBE	bronchial:	n/a
26	chr3:50341293-50341343	HNPCEpiC	eye:	n/a
27	chr3:50341293-50341343	AG04449	skin:	fetal
28	chr3:50341293-50341343	HAEpiC	amniotic membrane:	n/a
29	chr3:50341293-50341343	AG10803	skin:	n/a
30	chr3:50341293-50341343	HEEpiC	esophagus:	n/a
31	chr3:50341293-50341343	GM06990	blood:	n/a
32	chr3:50341293-50341343	AoSMC	blood vessel:	n/a
33	chr3:50341293-50341343	SK-N-MC	brain:	n/a
34	chr3:50341293-50341343	ProgFib	skin:	n/a
35	chr3:50341293-50341343	CMK	blood:	n/a
36	chr3:50341293-50341343	HRPEpiC	eye:	n/a
37	chr3:50341293-50341343	AG09309	skin:	n/a
38	chr3:50341293-50341343	HRCEpiC	kidney:	n/a
39	chr3:50341293-50341343	GM12891	blood:	n/a
40	chr3:50341293-50341343	ECC-1	luminal epithelium:	n/a
41	chr3:50341293-50341343	MCF-7	breast:	n/a
42	chr3:50341293-50341343	PFSK-1	brain:	n/a
43	chr3:50341293-50341343	GM12878	blood:	n/a
44	chr3:50341293-50341343	SKMC	muscle:	n/a
45	chr3:50341293-50341343	NT2-D1	testis:	n/a
46	chr3:50341293-50341343	GM19239	blood:	n/a
47	chr3:50341293-50341343	NB4	blood:	n/a
48	chr3:50341293-50341343	GM12892	blood:	n/a
49	chr3:50341293-50341343	NHDF-neo	bronchial:	n/a
50	chr3:50341293-50341343	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:50328544..50331099-chr3:50341314..50343587,2	MCF-7	breast:
2	chr3:50327926..50342388-chr3:50350886..50359960,36	MCF-7	breast:
3	chr3:50324564..50342616-chr3:50350801..50362499,49	MCF-7	breast:
4	chr18:74843234..74844124-chr3:50340676..50341490,2	Hela-S3	cervix:
5	chr3:50334885..50342502-chr3:50352987..50366859,26	K562	blood:
6	chr3:50334334..50341950-chr3:50357130..50360296,11	K562	blood:

Variant related genes	Relation type
HYAL1	TF binding region
HYAL3	TF binding region
NAT6	TF binding region
HYAL1	CpG island
NAT6	CpG island
HYAL3	CpG island
ENSG00000214706	Chromatin interaction
ENSG00000068001	Chromatin interaction
ENSG00000197971	Chromatin interaction
ENSG00000114383	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1005678	0.85[CHB][hapmap]
rs11130248	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12054052	1.00[AFR][1000 genomes];0.91[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];0.89[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12485286	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12485390	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.98[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];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12487392	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12488235	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12490809	0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12490837	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12491177	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12492683	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12492880	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12493693	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12494414	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12495261	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12496815	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12497018	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12498048	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12629572	0.84[CHD][hapmap]
rs12632110	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap]
rs12721544	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1989839	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs2006199	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2021734	0.88[AMR][1000 genomes]
rs2071203	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]
rs2071204	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];1.00[ASN][1000 genomes]
rs2071205	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071801	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2071804	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2072053	1.00[AFR][1000 genomes];0.92[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];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2073497	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073499	0.81[CHB][hapmap];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];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2229647	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2233474	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs2233476	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]
rs2236940	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2236941	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2236943	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2236944	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2236946	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236949	0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2236950	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs2236986	0.81[AMR][1000 genomes]
rs2269430	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2269432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269568	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2269569	0.84[ASN][1000 genomes]
rs2282750	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2282751	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs2285043	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2285044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298953	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2298954	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[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];0.85[MEX][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35455589	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35587949	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3774736	0.86[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];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774741	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774748	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs3774752	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774753	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3774754	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3774755	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4141060	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs4141407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688679	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688682	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688683	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4688721	0.82[AMR][1000 genomes]
rs4688722	1.00[AFR][1000 genomes]
rs4688724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688725	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688728	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688732	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688733	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688734	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];1.00[ASN][1000 genomes]
rs4688736	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688738	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688741	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688742	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688743	0.92[AMR][1000 genomes]
rs4688744	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4688746	0.85[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4688747	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57944420	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57978992	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58137261	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58181992	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58191283	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58648044	0.87[ASN][1000 genomes]
rs60276643	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6776145	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs72932959	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72932987	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs743855	1.00[LWK][hapmap]
rs7645537	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]
rs9311449	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9681992	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9830408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9852677	0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs9882618	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883222	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.85[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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50337800-50353800	Weak transcription	HSMMtube	muscle
2	chr3:50338000-50341600	Enhancers	Fetal Muscle Trunk	muscle
3	chr3:50338000-50342200	Weak transcription	NH-A	brain
4	chr3:50338000-50343600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:50338000-50352400	Weak transcription	Fetal Kidney	kidney
6	chr3:50338200-50342000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:50338200-50343000	Weak transcription	Fetal Thymus	thymus
8	chr3:50338200-50344400	Weak transcription	Brain Germinal Matrix	brain
9	chr3:50338200-50352800	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:50338200-50353800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr3:50338200-50353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:50338200-50353800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:50338200-50356000	Weak transcription	Primary T cells from cord blood	blood
14	chr3:50338400-50341400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:50338400-50352800	Weak transcription	Brain Anterior Caudate	brain
16	chr3:50338600-50342000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:50338600-50355600	Weak transcription	Fetal Brain Male	brain
18	chr3:50338600-50355800	Weak transcription	Brain Angular Gyrus	brain
19	chr3:50338800-50352600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:50338800-50353800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:50338800-50354000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:50339200-50353000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:50339400-50341400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:50339400-50341400	Flanking Active TSS	Hela-S3	cervix
25	chr3:50339400-50341800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:50339600-50341400	Enhancers	Fetal Intestine Large	intestine
27	chr3:50339600-50341400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr3:50339800-50341400	Enhancers	Ovary	ovary
29	chr3:50339800-50341600	Enhancers	Fetal Muscle Leg	muscle
30	chr3:50340000-50341400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:50340200-50341400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr3:50340200-50341400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:50340200-50341400	Enhancers	Fetal Heart	heart
34	chr3:50340200-50341600	Enhancers	Placenta	Placenta
35	chr3:50340400-50341400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:50340400-50341400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:50340400-50341600	Genic enhancers	Fetal Intestine Small	intestine
38	chr3:50340400-50342400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:50340400-50342600	Enhancers	NHEK	skin
40	chr3:50340600-50341400	Enhancers	Brain Substantia Nigra	brain
41	chr3:50340600-50341400	Enhancers	NHDF-Ad	bronchial
42	chr3:50340600-50341600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:50340600-50342600	Enhancers	HMEC	breast
44	chr3:50340800-50341400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:50340800-50341400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:50340800-50341400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr3:50340800-50341400	Enhancers	Spleen	Spleen
48	chr3:50340800-50341400	Enhancers	NHLF	lung
49	chr3:50340800-50342800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:50340800-50347000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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