Variant report

Variant	rs1528575
Chromosome Location	chr4:92246811-92246812
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	FOS	chr4:92246734-92247049	HUVEC	blood vessel:	n/a	n/a
2	ESR1	chr4:92246589-92246957	ECC-1	luminal epithelium:	n/a	n/a
3	BATF	chr4:92246616-92246958	GM12878	blood:	n/a	n/a
4	EP300	chr4:92246620-92246949	SK-N-SH_RA	brain:	n/a	chr4:92246898-92246912
5	NFIC	chr4:92246602-92247088	SK-N-SH	brain:	n/a	chr4:92246837-92246854
6	TCF12	chr4:92246481-92247129	SK-N-SH	brain:	n/a	n/a
7	EP300	chr4:92246505-92247133	SK-N-SH	brain:	n/a	chr4:92246526-92246533 chr4:92246898-92246912
8	FOSL2	chr4:92246687-92247125	SK-N-SH	brain:	n/a	n/a
9	NFIC	chr4:92246208-92247184	SK-N-SH	brain:	n/a	chr4:92246837-92246854
10	FOS	chr4:92246671-92247017	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA3	chr4:92246291-92247248	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr4:92246366-92247212	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr4:92246374-92247148	SK-N-SH	brain:	n/a	n/a
14	JUND	chr4:92246534-92247114	SK-N-SH	brain:	n/a	n/a
15	BATF	chr4:92246684-92246980	GM12878	blood:	n/a	n/a
16	STAT3	chr4:92246776-92246877	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:92246688-92246996	MCF10A-Er-Src	breast:	n/a	n/a
18	PBX3	chr4:92246563-92247017	SK-N-SH	brain:	n/a	n/a
19	FOS	chr4:92246676-92247017	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:92246689-92247009	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000249049	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1406316	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap]
rs1528564	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1528572	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1528573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528574	0.83[EUR][1000 genomes]
rs1528576	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[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]
rs1528581	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1534556	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs1609321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609322	1.00[ASW][hapmap];1.00[CEU][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[TSI][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]
rs1609323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881454	0.86[CEU][hapmap]
rs1881455	1.00[JPT][hapmap]
rs1919226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2178222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3762827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308338	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs4524348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4593093	0.83[CEU][hapmap]
rs6532289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532290	0.83[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs6532291	0.89[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap]
rs6532292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6532293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap]
rs6532299	0.87[CEU][hapmap];0.85[MEX][hapmap];0.81[AMR][1000 genomes]
rs6532301	0.90[JPT][hapmap]
rs6816636	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816883	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs6817404	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833290	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6834615	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841781	0.83[CEU][hapmap];0.85[MEX][hapmap]
rs7340864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7659326	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683541	0.83[CEU][hapmap];0.88[TSI][hapmap]
rs7696314	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs955500	0.83[CEU][hapmap]
rs9999729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9999885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869023	chr4:91940838-92935383	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3448147	chr4:92011533-92275731	Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3384271	chr4:92073391-92464275	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv879565	chr4:92142966-92251839	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv594846	chr4:92178715-92253926	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv1013025	chr4:92183325-92259485	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv997639	chr4:92188619-92257591	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv2763378	chr4:92188631-92257591	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv594848	chr4:92189590-92253926	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv1007212	chr4:92190510-92257591	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv879566	chr4:92215966-92322333	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv879567	chr4:92215966-92413671	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv522208	chr4:92241587-92283771	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1830673	chr4:92241587-92379081	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv879568	chr4:92244300-92429961	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92246200-92247000	Enhancers	HUVEC	blood vessel

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