Variant report

Variant	rs2012087
Chromosome Location	chr12:44496530-44496531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11182360	1.00[AMR][1000 genomes]
rs11182362	1.00[AMR][1000 genomes]
rs11182365	1.00[AMR][1000 genomes]
rs11182369	1.00[AMR][1000 genomes]
rs11182373	1.00[AMR][1000 genomes]
rs11182378	1.00[AMR][1000 genomes]
rs11182379	1.00[AMR][1000 genomes]
rs11182383	1.00[AMR][1000 genomes]
rs11182386	1.00[AMR][1000 genomes]
rs11182387	1.00[AMR][1000 genomes]
rs11182388	1.00[AMR][1000 genomes]
rs11182390	1.00[AMR][1000 genomes]
rs11182391	1.00[AMR][1000 genomes]
rs11182394	1.00[AMR][1000 genomes]
rs11182399	1.00[AMR][1000 genomes]
rs11182403	1.00[AMR][1000 genomes]
rs11182406	1.00[AMR][1000 genomes]
rs11182409	1.00[AMR][1000 genomes]
rs11182413	1.00[AMR][1000 genomes]
rs11609283	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs11609568	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs11613444	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12228693	1.00[AMR][1000 genomes]
rs12231403	1.00[AMR][1000 genomes]
rs1492887	1.00[ASN][1000 genomes]
rs1527316	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs1527317	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094057	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17094127	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094138	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094142	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094168	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094173	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094228	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094238	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094242	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17094244	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094257	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094260	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094264	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094272	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094276	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094278	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094282	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094291	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094292	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094299	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094304	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094306	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094313	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094328	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094330	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094333	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094336	1.00[CHB][hapmap]
rs17094338	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094341	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094351	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094358	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094374	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17121305	1.00[CHB][hapmap]
rs28397962	0.93[ASN][1000 genomes]
rs3858723	1.00[AMR][1000 genomes]
rs55645887	0.93[ASN][1000 genomes]
rs55747421	0.93[ASN][1000 genomes]
rs55874183	0.93[ASN][1000 genomes]
rs55991202	0.93[ASN][1000 genomes]
rs58450697	0.93[ASN][1000 genomes]
rs59136483	0.93[ASN][1000 genomes]
rs59704299	0.93[ASN][1000 genomes]
rs59957474	0.93[ASN][1000 genomes]
rs60461380	0.93[ASN][1000 genomes]
rs61228557	0.93[ASN][1000 genomes]
rs7308476	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs73100817	0.93[ASN][1000 genomes]
rs73100841	0.93[ASN][1000 genomes]
rs73100848	0.86[ASN][1000 genomes]
rs73102910	0.93[ASN][1000 genomes]
rs73102925	0.93[ASN][1000 genomes]
rs73102927	0.93[ASN][1000 genomes]
rs73102932	0.93[ASN][1000 genomes]
rs73102937	0.93[ASN][1000 genomes]
rs73102938	0.93[ASN][1000 genomes]
rs7311714	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs8181703	1.00[AMR][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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