Variant report

Variant	rs73847516
Chromosome Location	chr4:125544828-125544829
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10452156	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726448	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728357	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735627	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390079	0.96[EUR][1000 genomes]
rs28854561	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34805939	0.96[EUR][1000 genomes]
rs4398536	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820002	1.00[ASN][1000 genomes]
rs6839780	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842707	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846249	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125523800-125552800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:125524800-125546000	Weak transcription	HUVEC	blood vessel
3	chr4:125524800-125553000	Weak transcription	HSMMtube	muscle
4	chr4:125526400-125545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:125536000-125546000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:125536600-125552600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:125537200-125546000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:125539000-125561200	Weak transcription	Ovary	ovary
9	chr4:125539200-125548400	Weak transcription	Lung	lung
10	chr4:125539200-125572400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:125539400-125552200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:125540000-125546000	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:125540000-125590200	Weak transcription	Aorta	Aorta
14	chr4:125541400-125546400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:125543000-125548000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:125543600-125584200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:125544600-125553200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:125544800-125547000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:125544800-125553000	Weak transcription	Fetal Stomach	stomach
20	chr4:125544800-125553200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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