Variant report

Variant	rs4922194
Chromosome Location	chr8:20288442-20288443
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12056831	0.88[EUR][1000 genomes]
rs17092359	0.81[EUR][1000 genomes]
rs17092374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092434	0.88[EUR][1000 genomes]
rs17092492	0.83[EUR][1000 genomes]
rs17092502	0.80[EUR][1000 genomes]
rs17092511	0.80[EUR][1000 genomes]
rs2170171	0.88[EUR][1000 genomes]
rs2170172	0.88[EUR][1000 genomes]
rs4430109	0.81[EUR][1000 genomes]
rs4430110	0.81[EUR][1000 genomes]
rs4430111	0.81[EUR][1000 genomes]
rs4506236	0.86[EUR][1000 genomes]
rs4576439	0.81[EUR][1000 genomes]
rs4921718	0.90[EUR][1000 genomes]
rs4922195	0.90[EUR][1000 genomes]
rs4922196	0.88[EUR][1000 genomes]
rs4922200	0.88[EUR][1000 genomes]
rs58204896	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58247975	0.88[EUR][1000 genomes]
rs58430710	0.88[EUR][1000 genomes]
rs59876773	0.88[EUR][1000 genomes]
rs60888624	0.88[EUR][1000 genomes]
rs7003097	0.88[EUR][1000 genomes]
rs73609155	0.88[EUR][1000 genomes]
rs73609159	0.88[EUR][1000 genomes]
rs7465534	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7827108	0.81[EUR][1000 genomes]
rs7827252	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7827262	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7830125	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs950511	0.88[EUR][1000 genomes]
rs999746	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20280000-20291800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:20283200-20293000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:20287200-20292000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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