Variant report

Variant	rs7815372
Chromosome Location	chr8:65608460-65608461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:65487338..65488298-chr8:65607702..65608928,8	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10081461	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10090584	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs10092618	0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs10105184	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10112206	1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10808738	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10957321	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11986615	0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs11995512	0.91[ASN][1000 genomes]
rs11998077	0.95[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs12548518	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12681856	0.87[ASN][1000 genomes]
rs13251633	0.80[ASN][1000 genomes]
rs13252547	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs13260704	0.95[ASN][1000 genomes]
rs1986181	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs28679790	0.88[ASN][1000 genomes]
rs4236934	0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs4327886	0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs4395923	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs4406437	0.95[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs4437694	0.88[ASN][1000 genomes]
rs4452822	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4461935	0.83[ASN][1000 genomes]
rs4486246	0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs4507804	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs4532631	0.88[ASN][1000 genomes]
rs4549814	0.88[ASN][1000 genomes]
rs4581093	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs4737198	0.81[ASN][1000 genomes]
rs6472147	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs6472148	0.85[EUR][1000 genomes]
rs6999999	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs7002672	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs7004685	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs7005708	0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs7817744	0.95[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7827287	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7830315	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7834854	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9298087	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9298088	0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.88[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7815372	CHD7	cis	cerebellum	SCAN
rs7815372	DNAJC5B	cis	cerebellum	SCAN
rs7815372	CYP7B1	cis	cerebellum	SCAN
rs7815372	CYP7B1	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65604400-65610000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:65605600-65615200	Weak transcription	Aorta	Aorta
3	chr8:65606000-65608600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:65606000-65610000	Weak transcription	Left Ventricle	heart
5	chr8:65606000-65612600	Weak transcription	Pancreas	Pancrea
6	chr8:65606000-65612600	Weak transcription	Spleen	Spleen
7	chr8:65607600-65608800	Enhancers	Brain Angular Gyrus	brain
8	chr8:65607600-65609000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:65608000-65609600	Weak transcription	Fetal Brain Male	brain
10	chr8:65608000-65611600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:65608000-65612200	Weak transcription	Fetal Brain Female	brain
12	chr8:65608000-65612400	Weak transcription	Brain Anterior Caudate	brain
13	chr8:65608000-65612400	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:65608000-65612600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:65608200-65609000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:65608200-65609000	Weak transcription	Adipose Nuclei	Adipose
17	chr8:65608200-65612600	Weak transcription	Brain Substantia Nigra	brain
18	chr8:65608400-65608600	Enhancers	GM12878-XiMat	blood
19	chr8:65608400-65608800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:65608400-65609000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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