Variant report

Variant	rs4269498
Chromosome Location	chr8:11564479-11564480
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	HNF4A	chr8:11564024-11564523	HepG2	liver:	n/a	chr8:11564285-11564300
2	HNF4G	chr8:11564052-11564498	HepG2	liver:	n/a	chr8:11564286-11564301
3	EP300	chr8:11564051-11564495	HepG2	liver:	n/a	n/a
4	NFIC	chr8:11563981-11564507	HepG2	liver:	n/a	n/a
5	HNF4A	chr8:11563997-11564519	HepG2	liver:	n/a	chr8:11564285-11564300
6	EP300	chr8:11564034-11564524	HepG2	liver:	n/a	n/a
7	SP1	chr8:11564096-11564530	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
GATA4	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088151	1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[ASN][1000 genomes]
rs11777611	0.91[ASN][1000 genomes]
rs11781500	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11784821	0.80[EUR][1000 genomes]
rs11785555	0.80[EUR][1000 genomes]
rs11786824	0.80[EUR][1000 genomes]
rs2409813	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28473684	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28530664	0.89[ASN][1000 genomes]
rs34888744	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35813172	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4489290	0.98[ASN][1000 genomes]
rs61277615	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62489319	0.98[ASN][1000 genomes]
rs6990313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73203480	0.80[EUR][1000 genomes]
rs73203482	0.84[EUR][1000 genomes]
rs73203483	0.96[ASN][1000 genomes]
rs73203488	0.80[EUR][1000 genomes]
rs73203490	0.80[EUR][1000 genomes]
rs73203493	0.80[EUR][1000 genomes]
rs7817412	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7837066	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv6079	chr8:11564157-11573046	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11560400-11568400	Active TSS	Right Atrium	heart
2	chr8:11560600-11565800	Active TSS	Right Ventricle	heart
3	chr8:11561200-11565400	Active TSS	Ovary	ovary
4	chr8:11561400-11565800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr8:11561800-11565400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
6	chr8:11562800-11567400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:11563000-11565000	Flanking Active TSS	Liver	Liver
8	chr8:11563200-11565000	Weak transcription	Gastric	stomach
9	chr8:11563200-11565800	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr8:11563200-11568200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:11563600-11565800	Active TSS	Fetal Heart	heart
12	chr8:11563800-11564600	Weak transcription	Stomach Mucosa	stomach
13	chr8:11564200-11564800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
14	chr8:11564200-11568000	Active TSS	Left Ventricle	heart
15	chr8:11564200-11568600	Active TSS	Pancreas	Pancrea
16	chr8:11564400-11564600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:11564400-11564600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
18	chr8:11564400-11564800	Flanking Active TSS	HepG2	liver
19	chr8:11564400-11565400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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