Variant report

Variant	rs8054889
Chromosome Location	chr16:59608483-59608484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10083796	0.81[EUR][1000 genomes]
rs10492918	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12597033	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12709032	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1500294	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1500295	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1500297	0.83[EUR][1000 genomes]
rs1566438	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1818069	0.80[EUR][1000 genomes]
rs1818071	0.82[EUR][1000 genomes]
rs1827203	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2202009	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2202010	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2202011	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2221183	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28841687	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4633709	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6500043	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6500047	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7198362	0.96[EUR][1000 genomes]
rs7206696	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8046365	0.81[EUR][1000 genomes]
rs8052045	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8063284	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8063752	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs882854	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9302715	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9302716	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9921279	0.89[EUR][1000 genomes]
rs9922699	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9929021	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9933491	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9934111	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9937266	0.82[EUR][1000 genomes]
rs9939480	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9940831	0.82[AMR][1000 genomes];0.90[EUR][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	nsv906747	chr16:59385832-60172030	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv916423	chr16:59411801-59750824	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv572832	chr16:59578561-59756567	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8054889	CES7	cis	cerebellum	SCAN
rs8054889	FAM54A	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59606600-59609000	Enhancers	HSMM	muscle
2	chr16:59607000-59608800	Enhancers	Osteobl	bone
3	chr16:59607200-59608800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:59607200-59608800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr16:59607200-59608800	Enhancers	NH-A	brain
6	chr16:59607400-59608600	Enhancers	NHDF-Ad	bronchial
7	chr16:59608000-59608800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:59608000-59608800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:59608000-59609000	Flanking Active TSS	A549	lung
10	chr16:59608200-59609000	Enhancers	NHLF	lung
11	chr16:59608400-59608800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:59608400-59608800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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