Variant report

Variant	rs57239247
Chromosome Location	chr5:114687129-114687130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114684923..114687341-chr5:114688563..114690292,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10060558	0.93[EUR][1000 genomes]
rs11949904	0.93[EUR][1000 genomes]
rs11959552	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13170069	0.93[EUR][1000 genomes]
rs13357967	0.91[EUR][1000 genomes]
rs1455845	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1455846	0.93[EUR][1000 genomes]
rs17137669	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17137701	0.91[EUR][1000 genomes]
rs1824022	0.84[EUR][1000 genomes]
rs34040530	0.94[EUR][1000 genomes]
rs35759988	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7701924	0.94[EUR][1000 genomes];0.89[ASN][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114684400-114688000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:114684600-114687800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:114684600-114688000	Enhancers	Hela-S3	cervix
4	chr5:114684800-114687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:114685400-114691400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:114685600-114687400	Enhancers	A549	lung
7	chr5:114685600-114688200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:114685600-114695800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:114685800-114687200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:114685800-114687400	Weak transcription	NH-A	brain
11	chr5:114685800-114688000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:114685800-114689600	Weak transcription	Liver	Liver
13	chr5:114686000-114687200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:114686000-114687200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:114686000-114687200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:114686000-114687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:114686000-114687200	Weak transcription	Brain Substantia Nigra	brain
18	chr5:114686000-114687200	Weak transcription	NHEK	skin
19	chr5:114686000-114687200	Weak transcription	NHLF	lung
20	chr5:114686000-114687400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:114686000-114687400	Weak transcription	HMEC	breast
22	chr5:114686000-114687600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:114686200-114687200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:114686200-114687200	Weak transcription	NHDF-Ad	bronchial
25	chr5:114686200-114687400	Weak transcription	HSMM	muscle
26	chr5:114686200-114687400	Weak transcription	HSMMtube	muscle
27	chr5:114686200-114689600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:114686400-114687200	Weak transcription	Brain Anterior Caudate	brain
29	chr5:114686400-114690200	Weak transcription	Stomach Mucosa	stomach
30	chr5:114686600-114687800	Enhancers	K562	blood
31	chr5:114686800-114689800	Weak transcription	Aorta	Aorta
32	chr5:114687000-114688000	Enhancers	HUVEC	blood vessel
33	chr5:114687000-114688000	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links