Variant report

Variant	rs11051063
Chromosome Location	chr12:30915319-30915320
allele	C/T
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:

Variant related genes	Relation type
ENSG00000110888	Chromatin interaction
ENSG00000246331	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10444423	0.81[ASN][1000 genomes]
rs10734793	0.89[ASN][1000 genomes]
rs10743729	0.88[ASN][1000 genomes]
rs10771760	0.87[ASN][1000 genomes]
rs10771761	0.87[ASN][1000 genomes]
rs10771762	0.91[ASN][1000 genomes]
rs10843814	0.81[ASN][1000 genomes]
rs10843815	0.88[ASN][1000 genomes]
rs10843816	0.88[ASN][1000 genomes]
rs10843817	0.89[ASN][1000 genomes]
rs10843818	0.87[ASN][1000 genomes]
rs10843819	0.87[ASN][1000 genomes]
rs10843820	0.87[ASN][1000 genomes]
rs10843821	0.87[ASN][1000 genomes]
rs10843822	0.87[ASN][1000 genomes]
rs10843823	0.87[ASN][1000 genomes]
rs10843824	0.86[ASN][1000 genomes]
rs10843827	0.89[ASN][1000 genomes]
rs10843828	0.89[ASN][1000 genomes]
rs10843829	0.87[ASN][1000 genomes]
rs10843831	0.88[ASN][1000 genomes]
rs10843832	0.89[ASN][1000 genomes]
rs10843834	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051045	0.87[ASN][1000 genomes]
rs11051047	0.89[ASN][1000 genomes]
rs11051048	0.91[ASN][1000 genomes]
rs11051049	0.89[ASN][1000 genomes]
rs11051050	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051061	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11835180	0.89[ASN][1000 genomes]
rs12146709	0.89[ASN][1000 genomes]
rs12368923	0.87[ASN][1000 genomes]
rs12579182	0.81[EUR][1000 genomes]
rs12809335	0.81[ASN][1000 genomes]
rs12824388	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12830910	0.91[ASN][1000 genomes]
rs2241828	0.81[ASN][1000 genomes]
rs2289302	0.81[ASN][1000 genomes]
rs35133495	0.89[ASN][1000 genomes]
rs35336533	0.86[ASN][1000 genomes]
rs61923728	0.89[ASN][1000 genomes]
rs6487928	0.81[ASN][1000 genomes]
rs6487934	0.87[ASN][1000 genomes]
rs6487936	0.87[ASN][1000 genomes]
rs7299800	0.87[ASN][1000 genomes]
rs7958274	0.87[ASN][1000 genomes]
rs7958276	0.89[ASN][1000 genomes]
rs7966063	0.81[ASN][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	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
rs11051063	IPO8	Cis_1M	lymphoblastoid	RTeQTL
rs11051063	IPO8	cis	Artery Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30909600-30915800	Weak transcription	Pancreas	Pancrea
2	chr12:30913800-30917200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:30914800-30917800	Enhancers	HepG2	liver

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