Variant report

Variant	rs13125596
Chromosome Location	chr4:110795017-110795018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11098049	0.81[EUR][1000 genomes]
rs12498239	0.87[EUR][1000 genomes]
rs12508179	0.86[EUR][1000 genomes]
rs13115969	0.86[EUR][1000 genomes]
rs2078040	0.84[EUR][1000 genomes]
rs2347130	0.87[EUR][1000 genomes]
rs2347131	0.88[EUR][1000 genomes]
rs2347132	0.88[EUR][1000 genomes]
rs2347133	0.88[EUR][1000 genomes]
rs35043368	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4698751	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4698799	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55814498	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6814655	0.86[EUR][1000 genomes]
rs6816185	0.87[EUR][1000 genomes]
rs6841737	0.86[EUR][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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110786200-110796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:110789600-110795800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:110789800-110798400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:110791600-110795600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:110791800-110795400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:110791800-110797200	Weak transcription	Primary T cells from cord blood	blood
7	chr4:110791800-110799600	Weak transcription	Brain Angular Gyrus	brain
8	chr4:110793800-110797600	Enhancers	Pancreas	Pancrea
9	chr4:110794400-110796600	Enhancers	K562	blood
10	chr4:110794600-110795600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:110794800-110795600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:110794800-110796600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:110794800-110796600	Enhancers	NHEK	skin
14	chr4:110794800-110796800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:110795000-110795200	Enhancers	HSMMtube	muscle
16	chr4:110795000-110795400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:110795000-110795800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:110795000-110796600	Enhancers	Esophagus	oesophagus
19	chr4:110795000-110796600	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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