Variant report

Variant	rs6582494
Chromosome Location	chr12:44401246-44401247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10736018	0.92[EUR][1000 genomes]
rs10785492	0.92[EUR][1000 genomes]
rs10880608	0.91[EUR][1000 genomes]
rs10880616	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880617	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880618	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182360	1.00[JPT][hapmap]
rs11182369	1.00[JPT][hapmap]
rs11182373	1.00[JPT][hapmap]
rs11182375	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11182378	1.00[JPT][hapmap]
rs11182381	1.00[JPT][hapmap]
rs11182384	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11182385	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11182387	1.00[JPT][hapmap]
rs11182390	1.00[JPT][hapmap]
rs11182391	1.00[JPT][hapmap]
rs11182396	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11182399	1.00[JPT][hapmap]
rs11182402	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182404	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11182405	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12099769	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12228693	1.00[JPT][hapmap]
rs12230287	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12231403	1.00[JPT][hapmap]
rs12296857	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301507	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12313365	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1565620	0.91[AMR][1000 genomes]
rs1701083	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094013	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976211	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2407788	0.92[EUR][1000 genomes]
rs3858723	1.00[JPT][hapmap]
rs3929354	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55756710	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56198335	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6582495	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs73087684	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73087700	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73089723	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73089727	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7312422	0.92[EUR][1000 genomes]
rs7959226	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7980005	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9919676	0.91[AMR][1000 genomes];0.85[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	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
3	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
4	chr12:44394600-44403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:44394800-44401800	Weak transcription	HMEC	breast
6	chr12:44395000-44401400	Weak transcription	Fetal Intestine Large	intestine
7	chr12:44398000-44402400	Weak transcription	HSMM	muscle
8	chr12:44399200-44401800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:44400200-44401400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:44400200-44401800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:44401000-44401400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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