Variant report

Variant	rs313893
Chromosome Location	chr4:125537994-125537995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10001215	1.00[EUR][1000 genomes]
rs28535616	1.00[EUR][1000 genomes]
rs28683747	1.00[EUR][1000 genomes]
rs28713479	1.00[EUR][1000 genomes]
rs28836257	1.00[EUR][1000 genomes]
rs313899	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs313900	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs521639	1.00[EUR][1000 genomes]
rs536494	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs567082	1.00[EUR][1000 genomes]
rs6829502	1.00[EUR][1000 genomes]
rs72912782	1.00[EUR][1000 genomes]
rs72912784	1.00[EUR][1000 genomes]
rs72912785	1.00[EUR][1000 genomes]
rs72912797	1.00[EUR][1000 genomes]
rs72912800	1.00[EUR][1000 genomes]
rs72912801	1.00[EUR][1000 genomes]
rs72914611	1.00[EUR][1000 genomes]
rs72914618	1.00[EUR][1000 genomes]
rs72914633	1.00[EUR][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	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
2	nsv966542	chr4:125528212-125539843	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125506000-125538800	Weak transcription	Ovary	ovary
2	chr4:125518400-125538800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:125522800-125539200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:125523800-125552800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:125524600-125538600	Weak transcription	Lung	lung
6	chr4:125524800-125546000	Weak transcription	HUVEC	blood vessel
7	chr4:125524800-125553000	Weak transcription	HSMMtube	muscle
8	chr4:125526200-125539400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:125526400-125545000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:125531800-125538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:125531800-125544200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:125532000-125539200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:125535200-125538600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:125536000-125546000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:125536600-125538800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:125536600-125552600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:125537200-125546000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:125537800-125539600	Weak transcription	Fetal Lung	lung

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