Variant report

Variant	rs885271
Chromosome Location	chr4:126309091-126309092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10014217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10084892	0.84[ASN][1000 genomes]
rs11939811	0.87[ASN][1000 genomes]
rs11944077	0.87[ASN][1000 genomes]
rs12498276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12501179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12504612	0.98[ASN][1000 genomes]
rs12511204	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs12512105	0.86[ASN][1000 genomes]
rs1355161	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1396686	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1533037	1.00[EUR][1000 genomes]
rs17009509	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17009511	1.00[EUR][1000 genomes]
rs17009520	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[EUR][1000 genomes]
rs17009526	0.95[EUR][1000 genomes]
rs17009535	1.00[EUR][1000 genomes]
rs17009618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17009635	0.86[ASN][1000 genomes]
rs17009673	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2710544	0.95[EUR][1000 genomes]
rs2710545	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2710557	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[EUR][1000 genomes]
rs2710562	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[EUR][1000 genomes]
rs2710563	0.83[CHB][hapmap];1.00[EUR][1000 genomes]
rs2710591	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2940780	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4272024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4833325	0.87[ASN][1000 genomes]
rs56995730	1.00[EUR][1000 genomes]
rs57565770	1.00[EUR][1000 genomes]
rs57945315	0.86[EUR][1000 genomes]
rs58972262	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59208392	0.86[ASN][1000 genomes]
rs6830885	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[EUR][1000 genomes]
rs6840704	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73849218	0.86[ASN][1000 genomes]
rs73849222	0.86[ASN][1000 genomes]
rs73849223	0.84[ASN][1000 genomes]
rs970289	1.00[EUR][1000 genomes]
rs972312	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9968420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126290400-126309200	Weak transcription	HSMM	muscle
2	chr4:126290800-126317600	Weak transcription	Fetal Brain Male	brain
3	chr4:126296000-126311200	Weak transcription	Aorta	Aorta
4	chr4:126304200-126309600	Weak transcription	Fetal Heart	heart
5	chr4:126304600-126309200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:126305000-126309200	Weak transcription	HUVEC	blood vessel
7	chr4:126305000-126310600	Weak transcription	Fetal Kidney	kidney
8	chr4:126305400-126309800	Weak transcription	Fetal Lung	lung
9	chr4:126308200-126309200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:126308200-126309600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:126308400-126309200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:126308400-126336000	Weak transcription	Left Ventricle	heart
13	chr4:126308600-126311000	Enhancers	Osteobl	bone
14	chr4:126308800-126309200	Enhancers	Brain Substantia Nigra	brain
15	chr4:126308800-126309800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:126308800-126311200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:126308800-126311200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:126309000-126309400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:126309000-126309400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:126309000-126310400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:126309000-126311200	Enhancers	NHDF-Ad	bronchial
22	chr4:126309000-126311400	Enhancers	NHLF	lung
23	chr4:126309000-126312000	Enhancers	Colon Smooth Muscle	Colon

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