Variant report

Variant	rs59569722
Chromosome Location	chr2:53703177-53703178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17044784	1.00[ASN][1000 genomes]
rs55923674	1.00[ASN][1000 genomes]
rs61628104	0.87[ASN][1000 genomes]
rs6745622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6751127	0.87[ASN][1000 genomes]
rs72908927	0.87[ASN][1000 genomes]
rs72908932	0.87[ASN][1000 genomes]
rs72908943	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73934291	0.87[ASN][1000 genomes]
rs985549	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1008648	chr2:53683543-53708531	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv457862	chr2:53687730-53706903	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv582008	chr2:53687730-53706903	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv999571	chr2:53690538-53775723	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1012754	chr2:53690538-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv457873	chr2:53701324-53785037	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv582009	chr2:53701324-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53698000-53706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:53700400-53704200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:53701200-53704000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:53702000-53703200	Enhancers	NHDF-Ad	bronchial
5	chr2:53702200-53703200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:53702200-53703200	Enhancers	A549	lung
7	chr2:53702200-53703200	Enhancers	NHLF	lung
8	chr2:53702200-53703400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:53702200-53703600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:53702200-53703600	Enhancers	NH-A	brain
11	chr2:53702200-53704000	Enhancers	HMEC	breast
12	chr2:53702200-53704200	Enhancers	NHEK	skin
13	chr2:53702400-53703200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:53703000-53703200	Flanking Active TSS	Hela-S3	cervix

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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