Variant report

Variant	rs717322
Chromosome Location	chr19:52759023-52759024
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]
rs10409071	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416397	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11537695	1.00[ASN][1000 genomes]
rs13382052	1.00[ASN][1000 genomes]
rs41275796	1.00[ASN][1000 genomes]
rs41275802	1.00[ASN][1000 genomes]
rs56071533	1.00[ASN][1000 genomes]
rs58576324	1.00[ASN][1000 genomes]
rs61285115	1.00[ASN][1000 genomes]
rs717321	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73934406	1.00[ASN][1000 genomes]
rs73934407	1.00[ASN][1000 genomes]
rs73935029	1.00[ASN][1000 genomes]
rs73935031	1.00[ASN][1000 genomes]
rs73935032	1.00[ASN][1000 genomes]
rs73935039	1.00[ASN][1000 genomes]
rs73935040	1.00[ASN][1000 genomes]
rs73935041	1.00[ASN][1000 genomes]
rs73935044	1.00[ASN][1000 genomes]
rs73935048	1.00[ASN][1000 genomes]
rs73935050	1.00[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	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv3441119	chr19:52756399-52762539	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52733200-52759600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:52758600-52772200	Weak transcription	Stomach Smooth Muscle	stomach

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