Variant report

Variant	rs72937451
Chromosome Location	chr3:69573718-69573719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
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]
rs72937440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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]
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:2 , 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

No data

Chromatin state (count:18 , 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	chr3:69568200-69574000	Weak transcription	Fetal Lung	lung
5	chr3:69568400-69573800	Weak transcription	NHEK	skin
6	chr3:69570400-69575000	Weak transcription	Lung	lung
7	chr3:69571000-69581600	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:69571800-69575400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:69572000-69574400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:69572000-69578000	Weak transcription	Right Atrium	heart
11	chr3:69572000-69580600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:69572000-69581000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:69572600-69578600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:69572800-69574400	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:69572800-69579600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:69573000-69574600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:69573600-69574000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr3:69573600-69577400	Enhancers	Primary monocytes fromperipheralblood	blood

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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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