Variant report

Variant	rs2638855
Chromosome Location	chr12:44497579-44497580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10047523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1032886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880622	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880628	0.95[ASN][1000 genomes]
rs11182417	0.94[ASN][1000 genomes]
rs11182423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182431	0.95[ASN][1000 genomes]
rs11182432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11182442	0.95[ASN][1000 genomes]
rs11182443	1.00[JPT][hapmap]
rs11182449	1.00[JPT][hapmap]
rs11182453	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11182455	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs1155808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11612946	1.00[JPT][hapmap]
rs11613902	0.84[EUR][1000 genomes]
rs11615473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1168078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11832859	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11834667	0.84[EUR][1000 genomes]
rs11835507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12099982	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12297689	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12297754	0.95[ASN][1000 genomes]
rs12297933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12299030	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12299937	0.95[ASN][1000 genomes]
rs12300793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12307454	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12307560	1.00[JPT][hapmap]
rs12308449	0.92[ASN][1000 genomes]
rs12308569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12309639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12315961	0.84[EUR][1000 genomes]
rs12319009	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1352935	0.81[EUR][1000 genomes]
rs1643429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1643431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1701088	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1701094	0.92[CHB][hapmap]
rs17094063	0.81[EUR][1000 genomes]
rs17094092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094117	0.80[EUR][1000 genomes]
rs17094183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17094227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17094231	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17094235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17094344	1.00[JPT][hapmap]
rs17121310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2032782	1.00[JPT][hapmap]
rs2062952	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2062954	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2174508	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2657575	0.86[CHB][hapmap]
rs2657576	0.95[ASN][1000 genomes]
rs2657577	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55950371	0.80[EUR][1000 genomes]
rs57907832	0.95[ASN][1000 genomes]
rs59375742	0.95[ASN][1000 genomes]
rs59628873	0.84[EUR][1000 genomes]
rs61690882	0.95[ASN][1000 genomes]
rs6582498	0.81[EUR][1000 genomes]
rs66970043	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67184817	0.95[ASN][1000 genomes]
rs67713366	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68049983	0.84[EUR][1000 genomes]
rs7137469	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7295281	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7295832	0.95[ASN][1000 genomes]
rs7297563	0.95[ASN][1000 genomes]
rs7305976	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs7306647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7312930	0.95[ASN][1000 genomes]
rs7313269	0.95[ASN][1000 genomes]
rs7315208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7316737	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs73288050	0.84[EUR][1000 genomes]
rs7961974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7967957	0.81[EUR][1000 genomes]
rs7969885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7976652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7977482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7977539	1.00[JPT][hapmap]
rs7980383	0.84[EUR][1000 genomes]
rs963095	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44482800-44501000	Weak transcription	Left Ventricle	heart
2	chr12:44489000-44500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:44493000-44497600	Weak transcription	Pancreas	Pancrea

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