Variant report

Variant	rs12678403
Chromosome Location	chr8:131997719-131997720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10956568	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1157822	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11774179	0.91[ASN][1000 genomes]
rs11774222	0.91[ASN][1000 genomes]
rs11775729	1.00[ASN][1000 genomes]
rs11776501	0.94[ASN][1000 genomes]
rs11776563	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11776645	0.94[ASN][1000 genomes]
rs11776888	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11776982	0.86[ASN][1000 genomes]
rs11777665	0.91[ASN][1000 genomes]
rs11779286	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11781972	0.94[ASN][1000 genomes]
rs11782471	0.94[ASN][1000 genomes]
rs11784371	0.91[ASN][1000 genomes]
rs11784418	0.91[ASN][1000 genomes]
rs11784784	0.91[ASN][1000 genomes]
rs11784937	0.91[ASN][1000 genomes]
rs11991124	0.82[ASN][1000 genomes]
rs11995961	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682035	0.86[ASN][1000 genomes]
rs13249674	0.81[ASN][1000 genomes]
rs13260940	0.91[ASN][1000 genomes]
rs13261265	0.91[ASN][1000 genomes]
rs13276752	0.91[ASN][1000 genomes]
rs13276850	0.91[ASN][1000 genomes]
rs13278083	0.94[ASN][1000 genomes]
rs13281591	0.91[ASN][1000 genomes]
rs1329799	0.85[ASN][1000 genomes]
rs1329805	0.91[ASN][1000 genomes]
rs16904391	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16904392	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16904393	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904398	0.91[ASN][1000 genomes]
rs2026755	0.94[ASN][1000 genomes]
rs34359920	0.91[ASN][1000 genomes]
rs34396484	0.91[ASN][1000 genomes]
rs34620076	0.91[ASN][1000 genomes]
rs35123544	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35361060	0.85[ASN][1000 genomes]
rs35687211	0.91[ASN][1000 genomes]
rs35721413	0.91[ASN][1000 genomes]
rs4389913	0.91[ASN][1000 genomes]
rs59232626	0.94[ASN][1000 genomes]
rs59808230	0.91[ASN][1000 genomes]
rs6470884	0.91[ASN][1000 genomes]
rs67683764	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6980820	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6986982	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs71522600	0.91[ASN][1000 genomes]
rs71522601	0.85[ASN][1000 genomes]
rs71522602	0.91[ASN][1000 genomes]
rs71524503	0.91[ASN][1000 genomes]
rs71524504	0.91[ASN][1000 genomes]
rs71524505	0.91[ASN][1000 genomes]
rs7461448	0.86[ASN][1000 genomes]
rs7465434	0.94[ASN][1000 genomes]
rs7824237	0.94[ASN][1000 genomes]
rs7840509	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867964	0.85[ASN][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	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1028579	chr8:131909872-132497149	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1026579	chr8:131922531-132695045	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2761471	chr8:131963290-132281905	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131990200-132001800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:131997400-132020000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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