Variant report

Variant	rs6495044
Chromosome Location	chr15:73330423-73330424
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	chr15:73292066..73293935-chr15:73328471..73331128,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1017808	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs1119251	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs11634045	0.85[CHB][hapmap]
rs11636981	0.89[CHB][hapmap]
rs11856537	0.90[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap]
rs12594776	0.85[CHB][hapmap]
rs12595434	0.91[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs13379710	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1382782	0.85[CHB][hapmap]
rs1564347	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs4384589	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4436752	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4777585	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs4777587	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4777592	0.85[CHB][hapmap]
rs6495052	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6495053	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6495057	0.87[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7163543	0.82[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7173710	0.82[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7177758	0.80[JPT][hapmap]
rs7178123	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7495084	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs8040109	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8042836	0.85[EUR][1000 genomes]
rs9806269	0.88[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
rs6495044	CYP11A1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73326400-73330800	Weak transcription	Pancreas	Pancrea
2	chr15:73329800-73331600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:73330000-73331400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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