Variant report

Variant	rs11993013
Chromosome Location	chr8:79347387-79347388
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10091249	0.87[EUR][1000 genomes]
rs10095086	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10095501	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10099720	0.83[EUR][1000 genomes]
rs10102189	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10107528	0.83[EUR][1000 genomes]
rs10216378	0.87[EUR][1000 genomes]
rs10282748	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11992010	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11996494	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13340636	0.83[EUR][1000 genomes]
rs13438796	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13438972	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28410079	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28550609	0.83[ASN][1000 genomes]
rs28718988	0.87[EUR][1000 genomes]
rs4307332	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4421343	0.87[EUR][1000 genomes]
rs4498528	0.87[EUR][1000 genomes]
rs55759929	0.87[EUR][1000 genomes]
rs58824115	0.87[EUR][1000 genomes]
rs59700637	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59894646	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6473105	0.87[EUR][1000 genomes]
rs72622866	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72622867	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72622868	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72622869	0.87[EUR][1000 genomes]
rs72622874	0.87[EUR][1000 genomes]
rs72622880	0.87[EUR][1000 genomes]
rs72622881	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7817739	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7818554	0.83[ASN][1000 genomes]
rs7828090	0.83[EUR][1000 genomes]
rs7833623	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7833709	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891056	chr8:79206819-79394667	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1017218	chr8:79287819-79434844	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv539652	chr8:79287819-79434844	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1033453	chr8:79320533-79485680	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv891057	chr8:79340828-79394667	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79342800-79357200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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