Variant report

Variant	rs72937440
Chromosome Location	chr3:69570585-69570586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17006059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17006064	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17006074	0.98[ASN][1000 genomes]
rs17043813	1.00[ASN][1000 genomes]
rs58899916	1.00[ASN][1000 genomes]
rs61226116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72937412	0.96[ASN][1000 genomes]
rs72937439	1.00[AMR][1000 genomes]
rs72937441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72937447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72937448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72937450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72937451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72937452	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72937459	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72937463	1.00[ASN][1000 genomes]
rs72937464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3440010	chr3:69568087-69570635	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69560000-69584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:69560400-69575000	Weak transcription	Fetal Heart	heart
3	chr3:69564400-69573800	Weak transcription	HMEC	breast
4	chr3:69567000-69570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:69567200-69571800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:69567800-69572400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:69568200-69574000	Weak transcription	Fetal Lung	lung
8	chr3:69568400-69573800	Weak transcription	NHEK	skin
9	chr3:69568600-69571000	Weak transcription	Right Atrium	heart
10	chr3:69568800-69571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:69570000-69570800	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:69570000-69572000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:69570200-69572000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:69570400-69575000	Weak transcription	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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