Variant report

Variant	rs12270701
Chromosome Location	chr11:5581076-5581077
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10500646	0.83[GIH][hapmap]
rs10742718	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10742719	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10742720	0.86[ASN][1000 genomes]
rs10742721	0.86[ASN][1000 genomes]
rs10742722	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10742723	0.86[ASN][1000 genomes]
rs10742725	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10742726	0.86[ASN][1000 genomes]
rs10742729	0.86[ASN][1000 genomes]
rs10742731	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10769074	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10769087	0.86[ASN][1000 genomes]
rs10769088	0.86[ASN][1000 genomes]
rs10769089	0.86[ASN][1000 genomes]
rs10769092	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10769098	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10769101	0.86[ASN][1000 genomes]
rs10838341	1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[ASN][1000 genomes]
rs10838351	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10838362	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10838367	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10838375	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10838377	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10838378	0.86[ASN][1000 genomes]
rs10838379	0.86[ASN][1000 genomes]
rs11038193	0.86[ASN][1000 genomes]
rs12276948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278387	0.91[GIH][hapmap]
rs12281949	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs12289789	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17372123	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2163946	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2341432	1.00[JPT][hapmap]
rs2341434	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3910245	1.00[JPT][hapmap]
rs4547126	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4604918	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4608110	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4910572	0.86[ASN][1000 genomes]
rs4910821	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4910822	0.86[ASN][1000 genomes]
rs61892460	1.00[ASN][1000 genomes]
rs7927448	0.86[ASN][1000 genomes]
rs7927677	0.86[ASN][1000 genomes]
rs7929659	0.86[ASN][1000 genomes]
rs7930588	0.86[ASN][1000 genomes]
rs7930681	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7931917	0.86[ASN][1000 genomes]
rs7942070	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs892336	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs967664	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs967665	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs967666	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9804637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9804698	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv896940	chr11:5535007-5582430	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12270701	KRTAP5-3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5563600-5582400	Weak transcription	Aorta	Aorta

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