Variant report

Variant	rs11051061
Chromosome Location	chr12:30914668-30914669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30906552..30912004-chr12:30913131..30918158,9	K562	blood:
2	chr12:30646656..30649637-chr12:30912418..30914854,2	K562	blood:

Variant related genes	Relation type
ENSG00000246331	Chromatin interaction
ENSG00000110888	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10444423	0.84[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10734793	0.92[ASN][1000 genomes]
rs10743729	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10771756	0.81[ASN][1000 genomes]
rs10771757	0.83[ASN][1000 genomes]
rs10771760	0.90[ASN][1000 genomes]
rs10771761	0.90[ASN][1000 genomes]
rs10771762	0.94[ASN][1000 genomes]
rs10771768	0.90[JPT][hapmap]
rs10843804	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10843814	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10843815	0.91[ASN][1000 genomes]
rs10843816	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10843817	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10843818	0.90[ASN][1000 genomes]
rs10843819	0.90[ASN][1000 genomes]
rs10843820	0.90[ASN][1000 genomes]
rs10843821	0.90[ASN][1000 genomes]
rs10843822	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.90[ASN][1000 genomes]
rs10843823	0.90[ASN][1000 genomes]
rs10843824	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.89[ASN][1000 genomes]
rs10843827	0.92[ASN][1000 genomes]
rs10843828	0.92[ASN][1000 genomes]
rs10843829	0.90[ASN][1000 genomes]
rs10843831	0.91[ASN][1000 genomes]
rs10843832	0.92[ASN][1000 genomes]
rs10843833	0.89[JPT][hapmap]
rs10843834	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10843835	0.90[JPT][hapmap]
rs11051005	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs11051027	0.83[ASN][1000 genomes]
rs11051045	0.90[ASN][1000 genomes]
rs11051047	0.92[ASN][1000 genomes]
rs11051048	0.94[ASN][1000 genomes]
rs11051049	0.92[ASN][1000 genomes]
rs11051050	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11051053	0.90[JPT][hapmap]
rs11051063	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11835180	0.92[ASN][1000 genomes]
rs12146709	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12303852	0.90[JPT][hapmap]
rs12368923	0.90[ASN][1000 genomes]
rs12370947	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs12579182	0.81[EUR][1000 genomes]
rs12809335	0.84[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12809355	0.83[ASN][1000 genomes]
rs12824388	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12830910	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2241828	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2289302	0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2304630	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs35133495	0.92[ASN][1000 genomes]
rs35336533	0.89[ASN][1000 genomes]
rs4082413	0.90[JPT][hapmap]
rs61923728	0.92[ASN][1000 genomes]
rs6487928	0.84[ASN][1000 genomes]
rs6487933	0.81[CHB][hapmap]
rs6487934	0.90[ASN][1000 genomes]
rs6487936	0.90[ASN][1000 genomes]
rs6487939	0.90[JPT][hapmap]
rs7299800	0.90[ASN][1000 genomes]
rs7304221	0.90[JPT][hapmap]
rs7952744	0.90[JPT][hapmap]
rs7957141	0.90[JPT][hapmap]
rs7958274	0.90[ASN][1000 genomes]
rs7958276	0.92[ASN][1000 genomes]
rs7966063	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7971762	0.89[JPT][hapmap]
rs7971870	0.89[JPT][hapmap]
rs7980510	0.84[CHB][hapmap];1.00[JPT][hapmap]

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	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
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11051061	IPO8	Cis_1M	lymphoblastoid	RTeQTL
rs11051061	IPO8	cis	Artery Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30908800-30915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:30909200-30914800	Weak transcription	HepG2	liver
3	chr12:30909600-30915800	Weak transcription	Pancreas	Pancrea
4	chr12:30913800-30917200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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