Variant report

Variant	rs12058952
Chromosome Location	chr1:221520865-221520866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

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]
rs12057905	1.00[EUR][1000 genomes]
rs12065046	1.00[AMR][1000 genomes]
rs12070831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071559	1.00[AMR][1000 genomes]
rs12073583	1.00[EUR][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	0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087867	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]
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:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221518800-221523400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:221518800-221523600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:221520000-221536400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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