Variant report

Variant	rs7005708
Chromosome Location	chr8:65554969-65554970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1007219	0.83[MEX][hapmap];0.91[TSI][hapmap]
rs10081461	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10090584	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10092618	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10105184	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10112206	0.95[CHB][hapmap];0.84[CHD][hapmap];0.86[ASN][1000 genomes]
rs10808738	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10957321	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs11986615	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11995512	0.91[ASN][1000 genomes]
rs11998077	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12548518	0.81[CHD][hapmap]
rs12681856	0.94[ASN][1000 genomes]
rs13251633	0.88[ASN][1000 genomes]
rs13252547	0.91[CHB][hapmap];0.81[CHD][hapmap]
rs13260704	0.93[ASN][1000 genomes]
rs13282866	0.92[ASW][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs1986181	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs28679790	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779870	0.92[ASW][hapmap];0.96[CEU][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3779874	0.84[ASW][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap]
rs4236934	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4301481	0.82[EUR][1000 genomes]
rs4327886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4395923	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4406437	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4437694	0.95[ASN][1000 genomes]
rs4452822	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4465006	0.91[CEU][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs4467968	0.88[EUR][1000 genomes]
rs4486246	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4507804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4532631	0.95[ASN][1000 genomes]
rs4549814	0.95[ASN][1000 genomes]
rs4581093	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4737198	0.80[ASN][1000 genomes]
rs6472147	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs6999999	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7004685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs7008736	0.82[EUR][1000 genomes]
rs7815372	0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7817744	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827287	0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7830315	0.95[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs7834854	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs8192899	0.91[CEU][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs8192906	0.96[CEU][hapmap];0.81[JPT][hapmap]
rs9298085	0.84[EUR][1000 genomes]
rs9298087	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9298088	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1847262	chr8:65509694-65595527	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv6231	chr8:65538593-65583623	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7005708	CYP7B1	cis	parietal	SCAN
rs7005708	CHD7	cis	cerebellum	SCAN
rs7005708	CYP7B1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65553000-65555200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:65553200-65555200	Enhancers	HMEC	breast
3	chr8:65553400-65555200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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