Variant report

Variant	rs17490270
Chromosome Location	chr5:119812134-119812135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1432463	0.82[AMR][1000 genomes]
rs17146665	0.86[EUR][1000 genomes]
rs17146666	0.86[EUR][1000 genomes]
rs4895255	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57946643	0.86[EUR][1000 genomes]
rs72786237	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72786241	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72786243	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72786248	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119808600-119835800	Weak transcription	HSMM	muscle
2	chr5:119809000-119814200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:119809400-119814200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:119809800-119816800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:119810000-119814200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:119810000-119814400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:119811000-119813200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:119811400-119813400	Weak transcription	Ovary	ovary
9	chr5:119811800-119812200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:119811800-119812200	Enhancers	Fetal Heart	heart
11	chr5:119811800-119812400	Enhancers	K562	blood
12	chr5:119812000-119812200	Enhancers	Fetal Lung	lung
13	chr5:119812000-119812400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:119812000-119814200	Weak transcription	Osteobl	bone
15	chr5:119812000-119826800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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