Variant report

Variant	rs3933852
Chromosome Location	chr12:30741357-30741358
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10771745	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10843804	0.81[ASN][1000 genomes]
rs11051005	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11051008	0.84[ASN][1000 genomes]
rs11051010	0.87[AMR][1000 genomes]
rs12369125	0.87[AMR][1000 genomes]
rs12370947	0.84[ASN][1000 genomes]
rs12579616	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12580645	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581001	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12819059	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12825440	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12826615	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12829890	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28824537	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28881332	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34973510	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4335626	0.81[ASN][1000 genomes]
rs59177896	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7311530	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314823	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955804	0.81[ASN][1000 genomes]
rs7979718	0.81[ASN][1000 genomes]
rs7980510	0.81[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
rs3933852	IPO8	Cis_1M	lymphoblastoid	RTeQTL
rs3933852	IPO8	cis	Artery Tibial	GTEx

Chromatin state (count:8 , 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	chr12:30734000-30741400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:30734200-30749800	Weak transcription	Aorta	Aorta
6	chr12:30736600-30752400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:30739600-30752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:30739600-30756600	Weak transcription	Pancreas	Pancrea

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