Variant report

Variant	rs7827287
Chromosome Location	chr8:65605719-65605720
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:65604278..65606378-chr8:65613019..65614613,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10081461	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10090584	0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10092618	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs10105184	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs10112206	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808738	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.88[ASN][1000 genomes]
rs10957321	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986615	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs11995512	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11998077	0.94[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12548518	0.96[CEU][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12681856	0.90[ASN][1000 genomes]
rs13252547	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13260704	0.90[ASN][1000 genomes]
rs1986181	0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs28679790	0.86[ASN][1000 genomes]
rs4236934	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4327886	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs4395923	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap]
rs4406437	0.88[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4437694	0.91[ASN][1000 genomes]
rs4452822	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.86[ASN][1000 genomes]
rs4461935	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4486246	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4507804	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs4532631	0.91[ASN][1000 genomes]
rs4549814	0.91[ASN][1000 genomes]
rs4581093	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.88[ASN][1000 genomes]
rs4737198	0.85[ASN][1000 genomes]
rs6472147	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6999999	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.90[ASN][1000 genomes]
rs7004685	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7005708	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7815372	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7817744	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7830315	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7834854	0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs9298086	0.83[MEX][hapmap]
rs9298087	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.89[ASN][1000 genomes]
rs9298088	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.91[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7827287	CYP7B1	cis	cerebellum	SCAN
rs7827287	CYP7B1	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65600200-65606200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:65603400-65605800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr8:65603800-65608200	Weak transcription	Fetal Kidney	kidney
4	chr8:65604400-65610000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:65604600-65607400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:65604600-65607600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:65604800-65605800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:65604800-65607600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:65605000-65607600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:65605200-65607600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:65605400-65606000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:65605600-65605800	Enhancers	Adipose Nuclei	Adipose
13	chr8:65605600-65605800	Enhancers	Brain Angular Gyrus	brain
14	chr8:65605600-65606000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:65605600-65606000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:65605600-65606000	Enhancers	Fetal Heart	heart
17	chr8:65605600-65606000	Enhancers	Gastric	stomach
18	chr8:65605600-65606000	Enhancers	Left Ventricle	heart
19	chr8:65605600-65606000	Enhancers	Pancreas	Pancrea
20	chr8:65605600-65606000	Enhancers	Right Ventricle	heart
21	chr8:65605600-65606000	Enhancers	Spleen	Spleen
22	chr8:65605600-65615200	Weak transcription	Aorta	Aorta

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