Variant report

Variant	rs4378431
Chromosome Location	chr12:39884010-39884011
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10876868	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs10876876	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs10876886	0.94[JPT][hapmap]
rs10876972	0.84[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs10876989	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10877100	0.87[ASN][1000 genomes]
rs11171674	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs11171675	0.91[CEU][hapmap];0.94[JPT][hapmap]
rs11171676	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs11171720	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs11171789	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs11171891	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs11171901	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs11171923	0.81[CEU][hapmap];0.94[JPT][hapmap]
rs11171938	0.96[CEU][hapmap]
rs11172108	0.84[CEU][hapmap];0.93[JPT][hapmap]
rs11172120	0.84[CEU][hapmap];0.94[JPT][hapmap]
rs11172144	0.85[AFR][1000 genomes]
rs11172162	0.85[AFR][1000 genomes]
rs11172183	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172235	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172264	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172282	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11172319	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172320	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172357	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11172366	0.92[AFR][1000 genomes]
rs11172386	0.91[ASN][1000 genomes]
rs11172392	0.91[ASN][1000 genomes]
rs11172492	0.81[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs11172493	0.87[ASN][1000 genomes]
rs11172526	0.84[ASN][1000 genomes]
rs11172541	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172592	0.83[CEU][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs11172616	0.80[AFR][1000 genomes]
rs11172625	0.85[ASN][1000 genomes]
rs11172638	0.85[ASN][1000 genomes]
rs11172650	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172661	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs11172692	0.80[AFR][1000 genomes]
rs11830643	0.94[JPT][hapmap]
rs11836755	0.89[JPT][hapmap]
rs12228767	0.94[JPT][hapmap]
rs12230604	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs12424345	0.81[CEU][hapmap];0.94[JPT][hapmap]
rs1512936	0.94[JPT][hapmap]
rs1567739	0.84[CEU][hapmap];0.94[JPT][hapmap]
rs1828653	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs2388320	0.84[CEU][hapmap];0.94[JPT][hapmap]
rs35790935	0.82[AFR][1000 genomes]
rs3736466	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs4284427	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4285917	0.90[AFR][1000 genomes]
rs4320988	0.81[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs4390378	0.87[ASN][1000 genomes]
rs4451772	0.83[ASN][1000 genomes]
rs4466883	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4492858	0.84[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs4500523	0.87[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4564382	0.86[EUR][1000 genomes]
rs58036566	0.80[AFR][1000 genomes]
rs59695906	0.88[EUR][1000 genomes]
rs60263267	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60900225	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6581187	0.84[ASN][1000 genomes]
rs6581188	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7133599	0.84[AFR][1000 genomes]
rs7137143	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7294474	0.89[AFR][1000 genomes]
rs7302302	0.88[AFR][1000 genomes]
rs73094447	0.88[AFR][1000 genomes]
rs73094449	0.88[AFR][1000 genomes]
rs73094488	0.90[AFR][1000 genomes]
rs73096532	0.84[ASN][1000 genomes]
rs7316073	0.81[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7485730	0.85[ASN][1000 genomes]
rs7964447	0.94[JPT][hapmap]
rs7966540	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7968837	0.84[CEU][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7974928	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7979444	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][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	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:2 , 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	--

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