Variant report

Variant	rs11990376
Chromosome Location	chr8:8838098-8838099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11984720	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990446	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990476	0.86[AFR][1000 genomes]
rs11992016	1.00[YRI][hapmap]
rs11994497	1.00[AMR][1000 genomes]
rs17154990	1.00[AMR][1000 genomes]
rs17155102	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28587518	0.86[AFR][1000 genomes]
rs56373388	1.00[AMR][1000 genomes]
rs57259163	1.00[AMR][1000 genomes]
rs58797442	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59137033	1.00[AMR][1000 genomes]
rs61730229	1.00[AMR][1000 genomes]
rs6983343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007282	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7014604	0.86[AFR][1000 genomes]
rs7016240	0.86[AFR][1000 genomes]
rs73518367	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518386	1.00[AMR][1000 genomes]
rs73522591	1.00[AMR][1000 genomes]
rs73522596	1.00[AMR][1000 genomes]
rs73524091	1.00[AMR][1000 genomes]
rs73524209	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524213	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524221	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524263	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524268	1.00[AMR][1000 genomes]
rs73526008	1.00[AMR][1000 genomes]
rs7824053	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7839186	1.00[AMR][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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking 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	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8836000-8838600	Weak transcription	Liver	Liver
2	chr8:8836000-8839200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:8837600-8838200	Enhancers	Psoas Muscle	Psoas
4	chr8:8838000-8838400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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