Variant report

Variant	rs72937412
Chromosome Location	chr3:69555340-69555341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69554672..69557046-chr3:69557732..69559294,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17006059	0.96[ASN][1000 genomes]
rs17006064	0.96[ASN][1000 genomes]
rs17006074	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17043813	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58899916	0.96[ASN][1000 genomes]
rs61226116	0.96[ASN][1000 genomes]
rs72937440	0.96[ASN][1000 genomes]
rs72937441	0.96[ASN][1000 genomes]
rs72937447	0.96[ASN][1000 genomes]
rs72937448	0.96[ASN][1000 genomes]
rs72937450	0.96[ASN][1000 genomes]
rs72937451	0.96[ASN][1000 genomes]
rs72937452	0.96[ASN][1000 genomes]
rs72937459	0.96[ASN][1000 genomes]
rs72937463	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72937464	0.96[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69549800-69559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:69550000-69557800	Weak transcription	Right Atrium	heart
3	chr3:69550000-69559800	Weak transcription	Spleen	Spleen
4	chr3:69550200-69559600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:69550600-69559200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:69550800-69558600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:69553000-69555600	Enhancers	Fetal Lung	lung
8	chr3:69553600-69555600	Enhancers	NHEK	skin
9	chr3:69554200-69558200	Weak transcription	HMEC	breast
10	chr3:69554400-69555600	Enhancers	Fetal Heart	heart
11	chr3:69554600-69558000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:69554800-69555400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:69554800-69555400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:69554800-69559600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:69555000-69555400	Enhancers	Fetal Intestine Small	intestine
16	chr3:69555000-69555400	Enhancers	Ovary	ovary
17	chr3:69555000-69555600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:69555000-69555600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:69555000-69555600	Enhancers	Fetal Muscle Leg	muscle
20	chr3:69555200-69555400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:69555200-69555400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:69555200-69559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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