Variant report

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

rs_ID	r²[population]
rs10088602	1.00[CEU][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10096885	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10105605	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12335140	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28569084	0.96[EUR][1000 genomes]
rs4469499	1.00[CEU][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4538928	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs57952976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58477355	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61538039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61753755	1.00[EUR][1000 genomes]
rs66653049	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs66711862	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72678248	0.84[EUR][1000 genomes]
rs72678254	0.92[EUR][1000 genomes]
rs72678255	1.00[EUR][1000 genomes]
rs72678264	1.00[EUR][1000 genomes]
rs72678268	1.00[EUR][1000 genomes]
rs72680535	0.84[EUR][1000 genomes]
rs73315147	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9297615	1.00[MEX][hapmap]
rs9297618	0.84[AFR][1000 genomes];1.00[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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10101508	ENPP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121369600-121406200	Weak transcription	Left Ventricle	heart
2	chr8:121391200-121406600	Weak transcription	NHLF	lung
3	chr8:121391400-121407000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:121392200-121402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:121392800-121403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:121396600-121402600	Weak transcription	Fetal Stomach	stomach
7	chr8:121396600-121407200	Weak transcription	HSMM	muscle
8	chr8:121396800-121416800	Weak transcription	Aorta	Aorta
9	chr8:121397000-121407000	Weak transcription	HSMMtube	muscle
10	chr8:121397000-121407200	Weak transcription	Fetal Heart	heart
11	chr8:121397200-121404800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:121397200-121404800	Weak transcription	Osteobl	bone

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