Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10783760	0.98[ASN][1000 genomes]
rs10876814	0.97[ASN][1000 genomes]
rs10876818	0.98[ASN][1000 genomes]
rs11171573	0.97[ASN][1000 genomes]
rs11171574	0.95[ASN][1000 genomes]
rs11171579	0.98[ASN][1000 genomes]
rs11171588	0.82[ASN][1000 genomes]
rs11171589	0.92[ASN][1000 genomes]
rs11171590	0.82[ASN][1000 genomes]
rs11171592	0.90[ASN][1000 genomes]
rs1124741	0.81[CHD][hapmap];0.95[JPT][hapmap]
rs1896037	0.93[ASN][1000 genomes]
rs4759162	0.97[ASN][1000 genomes]
rs4759163	0.97[ASN][1000 genomes]
rs4759173	0.89[ASN][1000 genomes]
rs7134292	0.98[ASN][1000 genomes]
rs7138577	0.98[ASN][1000 genomes]
rs7305194	0.98[ASN][1000 genomes]
rs7953356	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9668674	0.83[ASN][1000 genomes]
rs9669106	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv832422	chr12:55832210-56001052	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv973201	chr12:55974291-56000681	Weak transcription Active TSS Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11171580	ITGB7	cis	parietal	SCAN
rs11171580	ATF7	cis	parietal	SCAN
rs11171580	HOXC8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:55974400-55976000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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