Variant report

Variant	rs12679866
Chromosome Location	chr8:119445776-119445777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10094604	0.84[ASN][1000 genomes]
rs10096317	0.85[ASN][1000 genomes]
rs10101386	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108907	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109048	0.85[ASN][1000 genomes]
rs10282819	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10283133	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955878	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10955879	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10955881	0.81[EUR][1000 genomes]
rs10955883	0.87[ASN][1000 genomes]
rs10955884	0.87[ASN][1000 genomes]
rs10955885	0.88[ASN][1000 genomes]
rs10955886	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955887	0.85[ASN][1000 genomes]
rs11773916	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11773953	0.84[ASN][1000 genomes]
rs11777111	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782499	0.88[ASN][1000 genomes]
rs11784091	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11784138	0.83[ASN][1000 genomes]
rs11991196	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11994945	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12155913	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12156188	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12156430	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12544750	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12675551	0.89[ASN][1000 genomes]
rs12677506	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12679343	0.85[ASN][1000 genomes]
rs12679873	0.80[ASN][1000 genomes]
rs12681581	0.89[ASN][1000 genomes]
rs12681600	0.88[ASN][1000 genomes]
rs13248112	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13251051	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13251354	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13251719	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13253470	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13253764	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13255144	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13260753	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13263320	0.89[ASN][1000 genomes]
rs13265657	0.89[ASN][1000 genomes]
rs34696908	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4075614	0.84[ASN][1000 genomes]
rs4128894	0.88[ASN][1000 genomes]
rs4242578	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4242579	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4242580	0.89[ASN][1000 genomes]
rs4375037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4443692	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4492409	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4493938	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4548208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4601348	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4626637	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4629902	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4631494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4876416	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4876417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4876832	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4876833	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4876837	0.87[ASN][1000 genomes]
rs4876838	0.88[ASN][1000 genomes]
rs4876839	0.85[ASN][1000 genomes]
rs4876840	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876841	0.85[ASN][1000 genomes]
rs4876842	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876845	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59298785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61636365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62533427	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469747	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6981538	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6982369	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6983068	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6985503	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7012582	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7812733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825963	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7826257	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7826375	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7826888	0.83[ASN][1000 genomes]
rs7830347	0.88[ASN][1000 genomes]
rs7830423	0.83[ASN][1000 genomes]
rs7831361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835295	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7838464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7846218	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297587	0.89[ASN][1000 genomes]
rs9642841	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643128	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643129	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656927	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv20481	chr8:119445015-119446781	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119434800-119451800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:119438000-119446400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:119442200-119449200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:119445200-119445800	Enhancers	NHLF	lung
5	chr8:119445200-119446000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:119445200-119446000	Enhancers	NHDF-Ad	bronchial
7	chr8:119445200-119446200	Enhancers	Osteobl	bone
8	chr8:119445200-119446800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:119445400-119445800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:119445400-119448600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:119445600-119445800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:119445600-119446200	Weak transcription	Fetal Intestine Small	intestine
13	chr8:119445600-119448000	Weak transcription	HUVEC	blood vessel
14	chr8:119445600-119450600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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