Variant report

Variant	rs6990313
Chromosome Location	chr8:11570036-11570037
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10088151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11777611	0.94[ASN][1000 genomes]
rs11781500	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11785555	1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs2409813	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28473684	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28530664	0.92[ASN][1000 genomes]
rs34888744	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35813172	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4269498	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]
rs4489290	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61277615	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62489319	0.94[ASN][1000 genomes]
rs73203482	0.81[EUR][1000 genomes]
rs73203483	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73203488	0.83[EUR][1000 genomes]
rs7817412	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7837066	0.94[EUR][1000 genomes];1.00[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11567200-11574400	Enhancers	Liver	Liver
2	chr8:11567800-11570400	Enhancers	Fetal Heart	heart
3	chr8:11568000-11577600	Weak transcription	Gastric	stomach
4	chr8:11568200-11570200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:11568200-11572200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:11568600-11571200	Enhancers	Pancreas	Pancrea
7	chr8:11568800-11570400	Genic enhancers	Fetal Intestine Small	intestine
8	chr8:11569000-11572400	Enhancers	Stomach Mucosa	stomach
9	chr8:11569600-11570800	Enhancers	Ovary	ovary
10	chr8:11569600-11571200	Weak transcription	Right Ventricle	heart
11	chr8:11569800-11570800	Weak transcription	Right Atrium	heart
12	chr8:11570000-11574400	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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