Variant report

Variant	rs12511473
Chromosome Location	chr4:128064920-128064921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10002403	1.00[ASN][1000 genomes]
rs10010552	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023151	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029217	1.00[ASN][1000 genomes]
rs1031943	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098912	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155135	0.90[EUR][1000 genomes]
rs11937459	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107744	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125153	1.00[ASN][1000 genomes]
rs1372967	1.00[ASN][1000 genomes]
rs1383517	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383519	1.00[ASN][1000 genomes]
rs1383522	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480901	1.00[ASN][1000 genomes]
rs1480902	1.00[ASN][1000 genomes]
rs1480907	1.00[ASN][1000 genomes]
rs1480908	1.00[ASN][1000 genomes]
rs1480911	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480913	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531684	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531685	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054560	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083754	1.00[ASN][1000 genomes]
rs2127816	1.00[ASN][1000 genomes]
rs2170268	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106205	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340443	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340450	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240280	1.00[ASN][1000 genomes]
rs4336239	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365744	1.00[ASN][1000 genomes]
rs4833371	1.00[ASN][1000 genomes]
rs4834182	1.00[ASN][1000 genomes]
rs4834183	1.00[ASN][1000 genomes]
rs4834185	1.00[ASN][1000 genomes]
rs4834187	1.00[ASN][1000 genomes]
rs6534599	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534612	1.00[ASN][1000 genomes]
rs6841506	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844804	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852817	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664962	1.00[ASN][1000 genomes]
rs7668919	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674918	1.00[ASN][1000 genomes]
rs7681026	0.97[AFR][1000 genomes]
rs7691994	1.00[ASN][1000 genomes]
rs7692034	1.00[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	nsv879914	chr4:128005362-128123638	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:128061000-128065600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:128061200-128067800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:128062600-128066000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:128062600-128066800	Enhancers	HSMMtube	muscle
5	chr4:128062600-128067000	Enhancers	HSMM	muscle
6	chr4:128063200-128066200	Weak transcription	Adipose Nuclei	Adipose
7	chr4:128063800-128065400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:128064000-128065400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:128064200-128065800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:128064200-128066200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:128064400-128065000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:128064600-128065000	Enhancers	NH-A	brain
13	chr4:128064600-128065200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:128064800-128065200	Enhancers	Fetal Stomach	stomach
15	chr4:128064800-128065800	Enhancers	NHDF-Ad	bronchial

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