Variant report

Variant	rs1439597
Chromosome Location	chr5:124472952-124472953
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10061454	1.00[AMR][1000 genomes]
rs10071085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076095	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1030951	1.00[AMR][1000 genomes]
rs12188573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13167433	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13182079	1.00[AMR][1000 genomes]
rs1371375	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1371376	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1371377	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550355	1.00[AMR][1000 genomes]
rs1550366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550367	1.00[AMR][1000 genomes]
rs4429850	1.00[AMR][1000 genomes]
rs4836150	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4836152	1.00[AMR][1000 genomes]
rs4836154	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6595579	1.00[AMR][1000 genomes]
rs6878640	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889068	1.00[AMR][1000 genomes]
rs7449435	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7720265	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327352	1.00[AMR][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	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv599658	chr5:124459547-124513012	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124470800-124473000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:124470800-124476400	Weak transcription	HUVEC	blood vessel
3	chr5:124471000-124475600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:124471000-124475600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:124471000-124476000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:124471000-124476000	Weak transcription	NHDF-Ad	bronchial
7	chr5:124471000-124476200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:124471000-124476400	Weak transcription	Osteobl	bone
9	chr5:124471000-124478400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:124471400-124476200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:124471400-124476200	Weak transcription	NH-A	brain
12	chr5:124471400-124484600	Weak transcription	HSMM	muscle
13	chr5:124472800-124474200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links