Variant report

Variant	rs11172319
Chromosome Location	chr12:39885170-39885171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10876868	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10876876	0.81[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10876886	0.95[JPT][hapmap]
rs10876972	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10876989	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10877100	0.87[ASN][1000 genomes]
rs11171674	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11171675	0.90[CEU][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap]
rs11171676	0.85[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs11171720	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs11171789	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs11171891	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs11171901	0.95[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs11171923	0.83[CEU][hapmap];0.94[JPT][hapmap]
rs11171938	0.95[CEU][hapmap];0.90[YRI][hapmap]
rs11172108	0.94[JPT][hapmap]
rs11172120	0.87[CEU][hapmap];0.95[JPT][hapmap]
rs11172183	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11172235	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172264	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11172282	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172320	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11172357	0.90[ASN][1000 genomes]
rs11172386	0.90[ASN][1000 genomes]
rs11172392	0.90[ASN][1000 genomes]
rs11172492	0.83[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11172493	0.87[ASN][1000 genomes]
rs11172526	0.83[ASN][1000 genomes]
rs11172541	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172592	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs11172625	0.84[ASN][1000 genomes]
rs11172638	0.84[ASN][1000 genomes]
rs11172650	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172661	0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs11830643	0.82[CEU][hapmap];0.95[JPT][hapmap]
rs11836755	0.90[JPT][hapmap]
rs12228767	0.82[CEU][hapmap];0.95[JPT][hapmap]
rs12230604	0.95[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs12424345	0.83[CEU][hapmap];0.95[JPT][hapmap]
rs1512936	0.95[JPT][hapmap]
rs1567739	0.87[CEU][hapmap];0.95[JPT][hapmap]
rs1828653	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2388320	0.87[CEU][hapmap];0.95[JPT][hapmap]
rs3736466	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs4284427	0.84[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs4320988	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4378431	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4390378	0.85[ASN][1000 genomes]
rs4451772	0.81[ASN][1000 genomes]
rs4466883	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4492858	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4500523	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4564382	0.82[EUR][1000 genomes]
rs59695906	0.85[EUR][1000 genomes]
rs60263267	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60900225	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6581187	0.82[ASN][1000 genomes]
rs6581188	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7137143	0.90[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs73096532	0.83[ASN][1000 genomes]
rs7316073	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7485730	0.84[ASN][1000 genomes]
rs7962283	0.82[CEU][hapmap]
rs7964447	0.95[JPT][hapmap]
rs7966540	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7968837	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7974928	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs7979444	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1044049	chr12:39845078-39922808	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1051709	chr12:39846990-39899051	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 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	chr12:39884000-39885400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:39884000-39885800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:39884200-39885200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:39884200-39885200	Enhancers	HMEC	breast
5	chr12:39884200-39885600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:39884400-39885200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:39884400-39885200	Enhancers	NHEK	skin
8	chr12:39884400-39885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:39884400-39885600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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