Variant report

Variant	rs11996494
Chromosome Location	chr8:79355609-79355610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10091249	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10095086	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095501	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099720	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10102189	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107528	0.92[EUR][1000 genomes]
rs10216378	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10282748	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987891	0.84[JPT][hapmap]
rs11992010	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11993013	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13340636	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13438796	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438972	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905657	0.84[JPT][hapmap]
rs16905662	0.82[JPT][hapmap]
rs28410079	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28550609	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28718988	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35487809	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4307332	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421343	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4498528	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4541900	0.80[AMR][1000 genomes]
rs55759929	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57065240	0.89[ASN][1000 genomes]
rs58824115	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59700637	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59894646	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6473105	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72622866	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72622867	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72622868	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72622869	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72622874	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72622880	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72622881	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73688971	0.80[AMR][1000 genomes]
rs7817739	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818554	0.94[ASN][1000 genomes]
rs7828090	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7833623	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833709	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9298313	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[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:15 , 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
2	chr8:79351000-79357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:79351400-79357200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:79354000-79356600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:79354200-79356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:79354200-79357000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:79354400-79356600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:79354400-79357000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:79354600-79356600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:79354600-79356800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:79354600-79357200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:79355200-79356000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:79355400-79356800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:79355600-79355800	Enhancers	Primary T cells from cord blood	blood
15	chr8:79355600-79355800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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