Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10771745	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11051005	0.93[AMR][1000 genomes]
rs11051008	0.85[AMR][1000 genomes]
rs11051010	0.84[AMR][1000 genomes]
rs12369125	0.84[AMR][1000 genomes]
rs12370947	0.83[AMR][1000 genomes]
rs12579616	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12580645	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12581001	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12819059	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12825440	0.84[AMR][1000 genomes]
rs12826615	0.84[AMR][1000 genomes]
rs12829890	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2278558	0.81[AMR][1000 genomes]
rs28824537	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34973510	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3933852	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59177896	0.82[AMR][1000 genomes]
rs7311530	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7314823	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28881332	IPO8	cis	Artery Tibial	GTEx
rs28881332	IPO8	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30727800-30752800	Weak transcription	Left Ventricle	heart
2	chr12:30732400-30752000	Weak transcription	HSMMtube	muscle
3	chr12:30733400-30752600	Weak transcription	Right Ventricle	heart
4	chr12:30734200-30749800	Weak transcription	Aorta	Aorta
5	chr12:30736600-30752400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:30739600-30752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:30739600-30756600	Weak transcription	Pancreas	Pancrea

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