Variant report

Variant	rs28397985
Chromosome Location	chr8:20798550-20798551
allele	C/G
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	FOXA1	chr8:20798511-20798829	HepG2	liver:	n/a	chr8:20798708-20798723
2	FOXA1	chr8:20798513-20798814	HepG2	liver:	n/a	chr8:20798708-20798723
3	FOXA1	chr8:20798428-20798796	HepG2	liver:	n/a	chr8:20798708-20798723

Variant related genes	Relation type
ENSG00000254260	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11787527	1.00[ASN][1000 genomes]
rs11989385	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546115	0.80[EUR][1000 genomes]
rs1441787	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441788	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17093418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17093424	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898519	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35999256	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961392	0.95[EUR][1000 genomes]
rs4961404	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57977046	0.80[EUR][1000 genomes]
rs58050368	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60577038	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995001	1.00[ASN][1000 genomes]
rs6995012	1.00[ASN][1000 genomes]
rs73209428	1.00[ASN][1000 genomes]
rs73668123	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73668222	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73668223	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73668224	0.80[EUR][1000 genomes]
rs73668226	0.80[EUR][1000 genomes]
rs73668227	0.83[EUR][1000 genomes]
rs73668228	0.83[EUR][1000 genomes]
rs73668266	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73668275	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73668276	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841898	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1020160	chr8:20652610-20825810	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv539526	chr8:20652610-20825810	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1024612	chr8:20665835-20837761	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv539527	chr8:20665835-20837761	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv890646	chr8:20714686-20843176	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1034265	chr8:20742935-21152545	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539528	chr8:20742935-21152545	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv890647	chr8:20749895-20847332	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv831258	chr8:20754932-20940380	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv890648	chr8:20783432-20810194	Enhancers Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20798000-20798600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr8:20798000-20798600	Enhancers	Right Ventricle	heart
3	chr8:20798000-20799000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr8:20798400-20798800	Enhancers	HepG2	liver
5	chr8:20798400-20799000	Enhancers	Fetal Lung	lung
6	chr8:20798400-20799200	Bivalent Enhancer	Fetal Intestine Large	intestine

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