Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1160312	0.86[EUR][1000 genomes]
rs1887056	0.85[EUR][1000 genomes]
rs201559	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs201567	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs201585	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs201586	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs201587	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs201588	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs201589	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs201590	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs201592	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs201593	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs201594	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2876631	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4813446	0.86[EUR][1000 genomes]
rs6036026	0.86[EUR][1000 genomes]
rs6036027	0.86[EUR][1000 genomes]
rs6036029	0.86[EUR][1000 genomes]
rs6047799	0.91[EUR][1000 genomes]
rs6047844	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6113496	0.85[EUR][1000 genomes]
rs913063	0.86[EUR][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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs127747	PLK1S1	cis	cerebellum	SCAN
rs127747	RIN2	cis	cerebellum	SCAN
rs127747	OVOL2	cis	cerebellum	SCAN
rs127747	GINS1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21987400-21989400	Enhancers	Fetal Stomach	stomach
2	chr20:21988600-21989200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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