Variant report

Variant	rs11147637
Chromosome Location	chr13:37767059-37767060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2399397	0.84[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes]
rs4054540	0.82[AMR][1000 genomes]
rs56237212	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73177068	0.82[AMR][1000 genomes]
rs7985933	0.86[AMR][1000 genomes]
rs9315471	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9594194	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9603141	0.82[AMR][1000 genomes]
rs9603144	0.86[AMR][1000 genomes];0.81[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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11147637	SPG20	cis	cerebellum	SCAN
rs11147637	FAM48A	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37766200-37769200	Enhancers	Fetal Lung	lung
2	chr13:37766400-37768000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:37766400-37768800	Enhancers	Osteobl	bone
4	chr13:37766400-37769400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:37766400-37772000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr13:37766600-37769800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:37766800-37769000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:37766800-37769600	Enhancers	NHDF-Ad	bronchial
9	chr13:37767000-37767400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:37767000-37767400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:37767000-37768000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:37767000-37768600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:37767000-37768600	Enhancers	NHLF	lung
14	chr13:37767000-37769400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:37767000-37769400	Enhancers	HUVEC	blood vessel
16	chr13:37767000-37769600	Enhancers	HMEC	breast
17	chr13:37767000-37770000	Enhancers	NH-A	brain

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