Variant report

Variant	rs11995512
Chromosome Location	chr8:65603582-65603583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10081461	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090584	0.95[ASN][1000 genomes]
rs10092618	0.92[ASN][1000 genomes]
rs10105184	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10112206	0.95[ASN][1000 genomes]
rs10808738	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10957321	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11986615	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998077	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548518	0.83[ASN][1000 genomes]
rs12681856	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13251633	0.83[ASN][1000 genomes]
rs13252547	0.84[ASN][1000 genomes]
rs13260704	0.95[ASN][1000 genomes]
rs1986181	0.95[ASN][1000 genomes]
rs28679790	0.91[ASN][1000 genomes]
rs4236934	0.92[ASN][1000 genomes]
rs4327886	0.89[ASN][1000 genomes]
rs4406437	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437694	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4452822	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4461935	0.83[ASN][1000 genomes]
rs4486246	0.92[ASN][1000 genomes]
rs4532631	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4549814	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4581093	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4737198	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6472147	0.95[ASN][1000 genomes]
rs6999999	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7005708	0.91[ASN][1000 genomes]
rs7815372	0.91[ASN][1000 genomes]
rs7817744	0.95[ASN][1000 genomes]
rs7827287	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7830315	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7834854	0.95[ASN][1000 genomes]
rs9298087	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9298088	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65586000-65605400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:65590800-65605600	Weak transcription	Spleen	Spleen
3	chr8:65600200-65606200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:65602600-65604600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:65603200-65605600	Weak transcription	Pancreas	Pancrea
6	chr8:65603400-65603600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:65603400-65603600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr8:65603400-65603800	Enhancers	NHEK	skin
9	chr8:65603400-65604200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:65603400-65604200	Enhancers	HMEC	breast
11	chr8:65603400-65604400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:65603400-65604600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:65603400-65604800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:65603400-65605000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:65603400-65605200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:65603400-65605600	Weak transcription	Left Ventricle	heart
17	chr8:65603400-65605800	Enhancers	H9 Cell Line	embryonic stem cell

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