Variant report

Variant	rs7827787
Chromosome Location	chr8:119323950-119323951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10481135	0.88[EUR][1000 genomes]
rs11994015	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11997306	0.86[EUR][1000 genomes]
rs12155712	0.90[EUR][1000 genomes]
rs13248150	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13275560	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1485895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17748839	0.87[ASN][1000 genomes]
rs2062425	0.89[ASN][1000 genomes]
rs2062426	0.89[ASN][1000 genomes]
rs34997644	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4579562	0.93[ASN][1000 genomes]
rs67368455	0.84[ASN][1000 genomes]
rs6994128	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6994270	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7008611	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73323697	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7813475	0.87[ASN][1000 genomes]
rs7827637	0.89[EUR][1000 genomes]
rs7829943	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7832024	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9297582	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119320400-119324600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:119321800-119325000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:119321800-119325200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:119322000-119324000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:119322200-119324400	Enhancers	Primary T cells from cord blood	blood
6	chr8:119322400-119324200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr8:119322800-119325600	Weak transcription	Pancreas	Pancrea
8	chr8:119323000-119324200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:119323000-119324200	Weak transcription	Small Intestine	intestine
10	chr8:119323000-119324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:119323000-119329400	Weak transcription	Left Ventricle	heart
12	chr8:119323000-119357600	Weak transcription	Aorta	Aorta
13	chr8:119323000-119394000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:119323200-119329800	Weak transcription	Liver	Liver
15	chr8:119323800-119324400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:119323800-119362400	Weak transcription	GM12878-XiMat	blood

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