Variant report

Variant	rs7163543
Chromosome Location	chr15:73334839-73334840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73334175..73339912-chr15:73340966..73347082,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067141	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1017808	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs1119251	0.86[CEU][hapmap];0.85[CHB][hapmap]
rs11634045	0.85[CHB][hapmap]
rs11636981	0.89[CHB][hapmap]
rs11856537	0.82[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap]
rs12594776	0.85[CHB][hapmap]
rs12595434	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs13379710	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1382782	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs1564347	0.82[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs4274405	0.80[AFR][1000 genomes]
rs4384589	0.88[EUR][1000 genomes]
rs4436752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4638547	0.85[GIH][hapmap]
rs4777585	0.82[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs4777587	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4777592	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs6495044	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6495052	0.82[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6495053	0.82[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6495057	0.91[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7173710	1.00[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7177758	0.80[JPT][hapmap]
rs7178123	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7495084	0.80[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs8040109	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8042836	0.85[EUR][1000 genomes]
rs9806269	0.89[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	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv482421	chr15:73279141-73426897	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7163543	CYP11A1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73331000-73339200	Weak transcription	Pancreas	Pancrea
2	chr15:73334400-73335000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:73334600-73335000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:73334800-73335000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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