Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10779573	0.90[AMR][1000 genomes]
rs10863955	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11119874	0.90[AMR][1000 genomes]
rs11119886	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12022111	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12124065	0.98[ASN][1000 genomes]
rs12133134	0.83[ASN][1000 genomes]
rs12134060	0.87[AMR][1000 genomes]
rs12135257	0.92[AMR][1000 genomes]
rs12137322	0.88[AMR][1000 genomes]
rs12142929	0.92[AMR][1000 genomes]
rs12145030	0.88[AMR][1000 genomes]
rs12407827	0.90[AMR][1000 genomes]
rs1493602	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17018685	0.90[AMR][1000 genomes]
rs17018777	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17663598	0.82[EUR][1000 genomes]
rs2358446	0.82[EUR][1000 genomes]
rs399429	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4418675	0.90[AMR][1000 genomes]
rs4951575	0.85[AMR][1000 genomes]
rs4951580	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs884923	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9793334	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9793974	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12136808	PPP2R5A	cis	Thyroid	GTEx
rs12136808	PPP2R5A	cis	Whole Blood	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212360400-212365600	Weak transcription	HepG2	liver
2	chr1:212363000-212365600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:212363000-212365600	Weak transcription	NHEK	skin
4	chr1:212363600-212368600	Weak transcription	Lung	lung

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