Variant report

Variant	rs12679873
Chromosome Location	chr8:119436711-119436712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10096317	0.91[CHB][hapmap]
rs10101386	0.95[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10108907	0.86[CHB][hapmap]
rs10283133	0.95[CHB][hapmap];0.80[CHD][hapmap]
rs10505334	0.88[CEU][hapmap]
rs10955877	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10955878	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs10955879	0.95[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10955883	0.91[CHB][hapmap]
rs10955884	0.91[CHB][hapmap]
rs10955885	0.91[CHB][hapmap]
rs10955886	0.86[CHB][hapmap]
rs10955887	0.91[CHB][hapmap]
rs11773916	0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11777111	0.82[ASN][1000 genomes]
rs11784091	0.82[ASN][1000 genomes]
rs11991196	0.85[ASN][1000 genomes]
rs11994945	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12156430	0.90[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs12675551	0.95[CHB][hapmap];0.80[CHD][hapmap]
rs12678159	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679343	0.89[CHB][hapmap]
rs12679866	0.80[ASN][1000 genomes]
rs12681581	0.95[CHB][hapmap];0.80[CHD][hapmap]
rs12681600	0.95[CHB][hapmap]
rs13248112	0.82[ASN][1000 genomes]
rs13251051	0.84[ASN][1000 genomes]
rs13251354	0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs13251719	0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs13253470	0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs13253764	0.83[ASN][1000 genomes]
rs13255144	0.95[CHB][hapmap]
rs13260753	0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs13263320	0.95[CHB][hapmap]
rs13265657	0.95[CHB][hapmap]
rs13269591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4075614	0.91[CHB][hapmap]
rs4128894	0.91[CHB][hapmap]
rs4242578	0.83[ASN][1000 genomes]
rs4242579	0.82[ASN][1000 genomes]
rs4242580	0.95[CHB][hapmap]
rs4375037	0.95[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4443692	0.91[CHB][hapmap]
rs4492409	0.95[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs4493938	0.86[CHB][hapmap]
rs4548208	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4601348	0.81[ASN][1000 genomes]
rs4626637	0.81[ASN][1000 genomes]
rs4629902	0.95[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs4631494	0.95[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4876414	0.84[CEU][hapmap]
rs4876416	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs4876833	0.95[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4876835	0.95[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs4876837	0.91[CHB][hapmap]
rs4876838	0.91[CHB][hapmap]
rs4876839	0.91[CHB][hapmap]
rs4876840	0.86[CHB][hapmap]
rs4876841	0.91[CHB][hapmap]
rs4876845	0.86[CHB][hapmap]
rs59298785	0.81[ASN][1000 genomes]
rs61636365	0.81[ASN][1000 genomes]
rs62533427	0.81[ASN][1000 genomes]
rs6469746	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs6469747	0.86[CHB][hapmap]
rs6981538	0.86[CHB][hapmap]
rs6982369	0.86[CHB][hapmap]
rs7012582	0.88[CHB][hapmap]
rs7812733	0.80[ASN][1000 genomes]
rs7812880	0.80[ASN][1000 genomes]
rs7813395	0.95[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs7825963	0.86[CHB][hapmap]
rs7826257	0.85[CHB][hapmap]
rs7830423	0.91[CHB][hapmap]
rs7831361	0.80[ASN][1000 genomes]
rs7831501	0.80[ASN][1000 genomes]
rs7835295	0.86[CHB][hapmap]
rs7838464	0.95[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs7846218	0.86[CHB][hapmap]
rs9297587	0.95[CHB][hapmap];0.80[CHD][hapmap]
rs9642841	0.95[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs9643128	0.90[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs9643129	0.80[ASN][1000 genomes]
rs9643130	1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs9656927	0.91[CHB][hapmap]

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	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr8:119431800-119437600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:119434800-119451800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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