Variant report

Variant	rs7311530
Chromosome Location	chr12:30740016-30740017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10444423	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs10743729	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs10771745	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10771768	0.94[JPT][hapmap]
rs10843804	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10843814	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs10843816	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs10843817	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs10843822	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs10843824	0.94[JPT][hapmap]
rs10843833	0.94[JPT][hapmap]
rs10843835	0.94[JPT][hapmap]
rs11051005	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11051008	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11051010	0.91[AMR][1000 genomes]
rs11051050	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap]
rs11051053	0.94[JPT][hapmap]
rs11051061	0.94[JPT][hapmap]
rs12146709	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs12303852	0.94[JPT][hapmap]
rs12369125	0.91[AMR][1000 genomes]
rs12370947	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12579616	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12580645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12809335	0.94[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap]
rs12819059	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12825440	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12826615	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12829890	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12830910	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2241828	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2278558	0.94[CEU][hapmap]
rs2289302	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2304630	0.94[JPT][hapmap]
rs28824537	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28881332	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34973510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36074842	0.82[AMR][1000 genomes]
rs3933852	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4082413	0.94[JPT][hapmap]
rs4335626	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59177896	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6487939	0.94[JPT][hapmap]
rs7304221	0.94[JPT][hapmap]
rs7314823	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952744	0.94[JPT][hapmap]
rs7955804	0.81[ASN][1000 genomes]
rs7957141	0.94[JPT][hapmap]
rs7966063	1.00[CEU][hapmap]
rs7971762	0.94[JPT][hapmap]
rs7971870	0.94[JPT][hapmap]
rs7978343	1.00[CEU][hapmap]
rs7979718	0.81[ASN][1000 genomes]
rs7980510	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];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
rs7311530	IPO8	cis	Artery Tibial	GTEx
rs7311530	IPO8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30726600-30740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:30727800-30752800	Weak transcription	Left Ventricle	heart
3	chr12:30732400-30752000	Weak transcription	HSMMtube	muscle
4	chr12:30733400-30752600	Weak transcription	Right Ventricle	heart
5	chr12:30734000-30741400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:30734200-30741000	Weak transcription	Lung	lung
7	chr12:30734200-30749800	Weak transcription	Aorta	Aorta
8	chr12:30736600-30752400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:30739600-30752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:30739600-30756600	Weak transcription	Pancreas	Pancrea

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