Variant report

Variant	rs17116648
Chromosome Location	chr8:20480047-20480048
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11986412	1.00[EUR][1000 genomes]
rs17092525	1.00[EUR][1000 genomes]
rs17092648	1.00[EUR][1000 genomes]
rs17092939	1.00[EUR][1000 genomes]
rs17092949	1.00[EUR][1000 genomes]
rs17092968	1.00[EUR][1000 genomes]
rs17092979	1.00[EUR][1000 genomes]
rs57350066	1.00[EUR][1000 genomes]
rs58021006	1.00[EUR][1000 genomes]
rs60949054	1.00[EUR][1000 genomes]
rs60973888	1.00[EUR][1000 genomes]
rs6987269	1.00[EUR][1000 genomes]
rs6993881	1.00[EUR][1000 genomes]
rs7004583	1.00[EUR][1000 genomes]
rs7017244	1.00[EUR][1000 genomes]
rs73607619	1.00[EUR][1000 genomes]
rs73607621	1.00[EUR][1000 genomes]
rs73607627	1.00[EUR][1000 genomes]
rs73607631	1.00[EUR][1000 genomes]
rs73607698	1.00[EUR][1000 genomes]
rs73667854	1.00[EUR][1000 genomes]
rs73667857	1.00[EUR][1000 genomes]
rs73667858	1.00[EUR][1000 genomes]
rs73667859	1.00[EUR][1000 genomes]
rs73667860	1.00[EUR][1000 genomes]
rs73667873	1.00[EUR][1000 genomes]
rs73668005	1.00[EUR][1000 genomes]
rs73668006	1.00[EUR][1000 genomes]
rs73668007	1.00[EUR][1000 genomes]
rs7815723	1.00[EUR][1000 genomes]
rs7841702	1.00[EUR][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916454	chr8:20342959-20531705	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20478200-20480800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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