Variant report

Variant	rs2523036
Chromosome Location	chr7:112040361-112040362
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112039049..112041015-chr7:112044066..112046309,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1015417	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1557698	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17492150	0.83[CHB][hapmap];0.80[CHD][hapmap];0.84[JPT][hapmap]
rs2396537	0.87[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2520468	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520469	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520472	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520478	0.85[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2520479	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520480	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2520481	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520483	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2520484	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2523043	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708591	0.89[ASN][1000 genomes]
rs2708593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708599	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36113101	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6977129	0.83[ASN][1000 genomes]
rs727807	1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs728273	0.92[CEU][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9640740	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs991632	0.99[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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2523036	GPR85	cis	parietal	SCAN
rs2523036	C7orf53	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112039000-112043800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:112039200-112045000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:112039200-112047800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:112039400-112044000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:112039600-112040400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:112039600-112040600	Enhancers	Osteobl	bone
7	chr7:112039600-112040800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:112040000-112040400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:112040000-112040400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:112040200-112040600	Enhancers	NHDF-Ad	bronchial

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