Variant report

Variant	rs2080688
Chromosome Location	chr12:47124876-47124877
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1073381	0.90[EUR][1000 genomes]
rs10785636	0.94[EUR][1000 genomes]
rs10785637	0.85[EUR][1000 genomes]
rs10785639	0.81[EUR][1000 genomes]
rs10880990	0.86[EUR][1000 genomes]
rs10880991	0.86[EUR][1000 genomes]
rs10880992	0.81[EUR][1000 genomes]
rs10880993	0.84[EUR][1000 genomes]
rs10880995	0.85[EUR][1000 genomes]
rs11183568	0.86[EUR][1000 genomes]
rs11183570	0.86[EUR][1000 genomes]
rs11183574	0.86[EUR][1000 genomes]
rs11183578	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183580	0.98[EUR][1000 genomes]
rs11183584	0.98[EUR][1000 genomes]
rs11183597	0.90[EUR][1000 genomes]
rs11520328	0.98[EUR][1000 genomes]
rs12369719	0.84[EUR][1000 genomes]
rs12370861	0.84[EUR][1000 genomes]
rs12372653	0.98[EUR][1000 genomes]
rs2098510	0.88[EUR][1000 genomes]
rs2098513	0.89[EUR][1000 genomes]
rs2408619	0.96[EUR][1000 genomes]
rs2408620	0.98[EUR][1000 genomes]
rs2429474	0.83[EUR][1000 genomes]
rs2430914	0.91[EUR][1000 genomes]
rs2430918	0.89[EUR][1000 genomes]
rs2430922	0.82[EUR][1000 genomes]
rs2465583	0.89[EUR][1000 genomes]
rs2465613	0.89[EUR][1000 genomes]
rs2465644	0.82[EUR][1000 genomes]
rs2715779	0.81[EUR][1000 genomes]
rs2897980	0.87[EUR][1000 genomes]
rs4603389	0.85[EUR][1000 genomes]
rs4768748	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768752	0.86[EUR][1000 genomes]
rs4768753	0.86[EUR][1000 genomes]
rs6582672	0.85[EUR][1000 genomes]
rs6582674	0.98[EUR][1000 genomes]
rs7136299	0.99[EUR][1000 genomes]
rs7305578	0.85[EUR][1000 genomes]
rs7959739	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7975961	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47121800-47131800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:47122800-47127800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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