Variant report

Variant	rs6991297
Chromosome Location	chr8:20739859-20739860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20737626..20740045-chr8:20787296..20789914,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10099980	1.00[ASN][1000 genomes]
rs11989385	1.00[CHB][hapmap]
rs12542154	0.83[ASN][1000 genomes]
rs12549758	0.83[ASN][1000 genomes]
rs13252578	1.00[ASN][1000 genomes]
rs17093416	1.00[CHB][hapmap]
rs17093418	1.00[CHB][hapmap]
rs2410673	0.83[ASN][1000 genomes]
rs28719733	1.00[ASN][1000 genomes]
rs4961391	0.83[ASN][1000 genomes]
rs4961395	1.00[ASN][1000 genomes]
rs4961404	1.00[CHB][hapmap]
rs4961410	0.83[ASN][1000 genomes]
rs4961411	0.83[ASN][1000 genomes]
rs4961418	1.00[ASN][1000 genomes]
rs6586939	1.00[ASN][1000 genomes]
rs6586941	0.83[ASN][1000 genomes]
rs6586945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6988688	1.00[ASN][1000 genomes]
rs6992184	0.83[ASN][1000 genomes]
rs7002145	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs71512791	1.00[ASN][1000 genomes]
rs7830162	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv831257	chr8:20610436-20767433	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv890645	chr8:20708335-20762512	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20738600-20740000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:20738600-20740000	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr8:20738600-20740000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:20739600-20740000	Weak transcription	Fetal Intestine Large	intestine
5	chr8:20739800-20740200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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