Variant report

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

rs_ID	r²[population]
rs1027950	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12611806	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12612665	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12620195	0.83[ASN][1000 genomes]
rs12622340	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1510612	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17046153	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1848923	0.84[EUR][1000 genomes]
rs2007020	0.91[ASN][1000 genomes]
rs2567837	0.91[ASN][1000 genomes]
rs354188	0.92[ASN][1000 genomes]
rs354215	0.93[ASN][1000 genomes]
rs4671229	0.88[EUR][1000 genomes]
rs4671966	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4671968	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56898160	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738725	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618664	0.82[AMR][1000 genomes]
rs72618665	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72618666	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72618667	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72618669	0.80[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv963149	chr2:54914350-54920863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72618668	EML6	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54908800-54921400	Weak transcription	Lung	lung
2	chr2:54918600-54919600	Enhancers	Fetal Intestine Large	intestine
3	chr2:54918600-54919600	Enhancers	HepG2	liver
4	chr2:54918600-54919600	Enhancers	K562	blood
5	chr2:54919000-54919600	Enhancers	Pancreas	Pancrea
6	chr2:54919400-54922400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:54919400-54924800	Weak transcription	Fetal Intestine Small	intestine

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