Variant report

Variant	rs2116466
Chromosome Location	chr8:62077149-62077150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11778157	0.89[ASN][1000 genomes]
rs12541340	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12545360	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17764366	0.87[ASN][1000 genomes]
rs17831865	0.87[ASN][1000 genomes]
rs2003204	0.87[ASN][1000 genomes]
rs2017819	0.87[ASN][1000 genomes]
rs2116468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163609	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2349937	0.83[ASN][1000 genomes]
rs2931296	1.00[YRI][hapmap]
rs2931325	0.83[ASN][1000 genomes]
rs2931326	0.92[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2931327	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs2978563	1.00[YRI][hapmap]
rs4033372	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55901932	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56146367	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62524553	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67140761	0.87[ASN][1000 genomes]
rs7822608	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	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv465698	chr8:62036793-62179465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611426	chr8:62036793-62179465	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1026243	chr8:62039073-62101123	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv890949	chr8:62073346-62141341	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62063000-62084600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:62068200-62084200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:62076800-62078000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:62077000-62077200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:62077000-62078400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:62077000-62084000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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