Variant report

Variant	rs720263
Chromosome Location	chr8:54592111-54592112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1075106	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10958388	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11778732	0.86[ASN][1000 genomes]
rs13259308	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263098	0.86[ASN][1000 genomes]
rs13269498	0.84[ASN][1000 genomes]
rs13274289	0.84[ASN][1000 genomes]
rs1552149	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6983168	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983482	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988008	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6992887	0.84[ASN][1000 genomes]
rs6999837	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7002636	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7005205	0.85[EUR][1000 genomes]
rs7008117	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7461045	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7464428	0.80[ASN][1000 genomes]
rs7828363	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7841871	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1830188	chr8:54520350-54601462	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv890919	chr8:54521248-54607336	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv890920	chr8:54559770-54626539	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr8:54591400-54592200	Enhancers	HepG2	liver
2	chr8:54591600-54592200	Enhancers	Stomach Mucosa	stomach

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