Variant report

Variant	rs722808
Chromosome Location	chr4:120693048-120693049
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120692868..120695733-chr4:120948622..120950761,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10016938	0.91[ASN][1000 genomes]
rs11722660	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11726524	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11730012	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11731926	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11732719	0.91[ASN][1000 genomes]
rs17005450	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17005667	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17295253	0.91[ASN][1000 genomes]
rs17296412	0.91[ASN][1000 genomes]
rs35428685	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3857096	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55685100	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55717715	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55788903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55929181	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56291824	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56336246	1.00[ASN][1000 genomes]
rs56337310	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57160305	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57678859	0.81[EUR][1000 genomes]
rs58342688	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59063054	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60849110	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61595361	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61707138	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72906506	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72906508	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72906511	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72906573	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73842698	0.91[ASN][1000 genomes]
rs73842716	0.91[ASN][1000 genomes]
rs9968281	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv966541	chr4:120671470-120702965	Enhancers Weak transcription Bivalent Enhancer Active TSS	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	chr4:120690200-120695000	Weak transcription	Fetal Heart	heart
2	chr4:120692800-120693200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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