Variant report

Variant	rs28593722
Chromosome Location	chr4:125548228-125548229
allele	A/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:20)

rs_ID	r²[population]
rs10026096	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13434506	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13435256	0.87[ASN][1000 genomes]
rs17008483	0.87[ASN][1000 genomes]
rs17008497	0.87[ASN][1000 genomes]
rs2055274	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28446748	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28570281	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28691726	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2893092	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3733472	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4410542	0.87[ASN][1000 genomes]
rs72925412	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72925417	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72925427	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72925486	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72925494	0.87[ASN][1000 genomes]
rs72925502	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72927437	0.87[ASN][1000 genomes]
rs870741	0.93[AMR][1000 genomes];0.97[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:21 , 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	chr4:125524800-125553000	Weak transcription	HSMMtube	muscle
3	chr4:125536600-125552600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:125539000-125561200	Weak transcription	Ovary	ovary
5	chr4:125539200-125548400	Weak transcription	Lung	lung
6	chr4:125539200-125572400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:125539400-125552200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:125540000-125590200	Weak transcription	Aorta	Aorta
9	chr4:125543600-125584200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:125544600-125553200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:125544800-125553000	Weak transcription	Fetal Stomach	stomach
12	chr4:125544800-125553200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:125545000-125572400	Weak transcription	Left Ventricle	heart
14	chr4:125545200-125552800	Weak transcription	HSMM	muscle
15	chr4:125546000-125549000	Strong transcription	HUVEC	blood vessel
16	chr4:125546000-125549200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:125546400-125548400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:125547000-125548800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:125547000-125571400	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:125548000-125549000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:125548200-125553000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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