Variant report

Variant	rs12371593
Chromosome Location	chr12:87060603-87060604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10858445	1.00[CEU][hapmap]
rs11103995	1.00[CEU][hapmap]
rs11104005	1.00[CEU][hapmap]
rs11104014	1.00[CEU][hapmap]
rs11104025	1.00[CEU][hapmap]
rs11104028	1.00[CEU][hapmap]
rs11104037	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11104053	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11104058	1.00[CEU][hapmap]
rs11104059	1.00[CEU][hapmap]
rs11104064	1.00[CEU][hapmap]
rs12367222	1.00[CEU][hapmap]
rs12367354	1.00[CEU][hapmap]
rs12368932	1.00[CEU][hapmap]
rs12371713	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2559814	1.00[CEU][hapmap]
rs7131820	1.00[CEU][hapmap]
rs73391179	0.89[EUR][1000 genomes]
rs73391182	0.89[EUR][1000 genomes]
rs7978196	1.00[CEU][hapmap]
rs7979922	1.00[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899395	chr12:86813367-87177972	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv916862	chr12:86837694-87718558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899396	chr12:86863041-87276957	ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv899397	chr12:86863041-87636831	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv899399	chr12:86880442-87177972	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv916604	chr12:86966256-87275268	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1049580	chr12:86966497-87354132	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv899400	chr12:87055983-87194443	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87054800-87062200	Weak transcription	HMEC	breast
2	chr12:87057200-87062200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:87057400-87062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:87057600-87062000	Weak transcription	NHEK	skin
5	chr12:87058000-87062200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:87059800-87061200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:87059800-87061200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:87059800-87061400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:87060000-87061600	Enhancers	A549	lung

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