Variant report

Variant	rs12070831
Chromosome Location	chr1:221544607-221544608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11118661	1.00[EUR][1000 genomes]
rs11118666	1.00[AMR][1000 genomes]
rs11118693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118720	1.00[AMR][1000 genomes]
rs11118752	1.00[AMR][1000 genomes]
rs12057905	1.00[EUR][1000 genomes]
rs12058952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064948	1.00[AMR][1000 genomes]
rs12065046	1.00[AMR][1000 genomes]
rs12071559	1.00[AMR][1000 genomes]
rs12075523	1.00[AMR][1000 genomes]
rs12077976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085527	1.00[EUR][1000 genomes]
rs12085787	1.00[AMR][1000 genomes]
rs12086603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086869	1.00[EUR][1000 genomes]
rs12087035	1.00[AMR][1000 genomes]
rs12087664	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087867	1.00[AMR][1000 genomes]
rs12089533	1.00[AMR][1000 genomes]
rs12095681	1.00[AMR][1000 genomes]
rs60434045	1.00[AMR][1000 genomes]
rs60865356	1.00[EUR][1000 genomes]
rs6663534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6667275	1.00[EUR][1000 genomes]
rs73094956	1.00[EUR][1000 genomes]
rs73101522	1.00[EUR][1000 genomes]
rs74144265	1.00[AMR][1000 genomes]
rs74144283	1.00[AMR][1000 genomes]
rs74144295	1.00[AMR][1000 genomes]
rs74144384	1.00[EUR][1000 genomes]
rs74145351	1.00[AMR][1000 genomes]
rs74146103	1.00[AMR][1000 genomes]
rs7522887	1.00[EUR][1000 genomes]
rs7536615	1.00[EUR][1000 genomes]
rs9943267	1.00[AMR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv947160	chr1:221533184-221544885	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221540400-221544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:221542200-221554400	Weak transcription	NHDF-Ad	bronchial
3	chr1:221543400-221546400	Weak transcription	Pancreas	Pancrea
4	chr1:221544600-221546200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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