Variant report

Variant	rs12657613
Chromosome Location	chr5:124648523-124648524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10037035	0.95[ASN][1000 genomes]
rs10039759	0.90[ASN][1000 genomes]
rs10044610	0.90[ASN][1000 genomes]
rs11740072	0.94[ASN][1000 genomes]
rs11954232	0.99[ASN][1000 genomes]
rs11954294	0.97[ASN][1000 genomes]
rs13157843	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13157850	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13158653	0.83[ASN][1000 genomes]
rs13158797	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13170987	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13184546	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13189249	0.97[ASN][1000 genomes]
rs13189771	0.97[ASN][1000 genomes]
rs13354270	0.86[ASN][1000 genomes]
rs13360309	0.88[ASN][1000 genomes]
rs1371383	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1530448	0.83[ASN][1000 genomes]
rs1530449	0.83[ASN][1000 genomes]
rs17462237	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17463846	0.86[ASN][1000 genomes]
rs17523152	0.90[ASN][1000 genomes]
rs2099702	0.85[ASN][1000 genomes]
rs34061745	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34481463	0.82[ASN][1000 genomes]
rs34743230	0.83[ASN][1000 genomes]
rs35066093	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35311589	0.95[ASN][1000 genomes]
rs4537060	0.91[ASN][1000 genomes]
rs4640788	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836172	0.83[ASN][1000 genomes]
rs62373337	0.99[ASN][1000 genomes]
rs71586056	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71586057	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73782307	0.90[ASN][1000 genomes]
rs73782308	0.90[ASN][1000 genomes]
rs7701670	0.82[ASN][1000 genomes]
rs7714653	0.89[ASN][1000 genomes]
rs7727788	0.99[ASN][1000 genomes]
rs7729384	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7735092	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[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	nsv1034696	chr5:124616571-124654771	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124646200-124648600	Enhancers	NHDF-Ad	bronchial
2	chr5:124646800-124648600	Enhancers	NHLF	lung
3	chr5:124647200-124649200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:124647600-124648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:124648000-124648600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:124648000-124649400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:124648200-124649800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:124648200-124651800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:124648400-124649200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:124648400-124651800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:124648400-124651800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:124648400-124652000	Weak transcription	Osteobl	bone

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