Variant report

Variant	rs7311651
Chromosome Location	chr12:30915620-30915621
allele	C/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:

Variant related genes	Relation type
ENSG00000246331	Chromatin interaction
ENSG00000110888	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10734791	0.81[ASN][1000 genomes]
rs10743733	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743734	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10771754	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10771759	0.81[ASN][1000 genomes]
rs10771764	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771769	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051013	0.84[EUR][1000 genomes]
rs11051052	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12370429	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13656	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1371049	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1371053	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1866416	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2099661	0.81[AMR][1000 genomes]
rs2289301	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2304630	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2352210	0.83[EUR][1000 genomes]
rs2352217	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33132	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3782685	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4143103	0.83[EUR][1000 genomes]
rs4930935	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4930936	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4931356	0.82[EUR][1000 genomes]
rs6487932	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6487933	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7136079	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs718368	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7297455	0.83[ASN][1000 genomes]
rs7298007	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7298180	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7304879	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7304976	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7963494	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7968587	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9300199	0.85[AMR][1000 genomes];0.87[EUR][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
rs7311651	IPO8	cis	Artery Tibial	GTEx
rs7311651	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:4 , 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
4	chr12:30915400-30917800	Enhancers	K562	blood

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