Variant report

Variant	rs10743733
Chromosome Location	chr12:30909356-30909357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr12:30909225-30910827	PBDE	blood:	n/a	n/a
2	POLR2A	chr12:30909281-30909387	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:30908801-30909399	HepG2	liver:	n/a	n/a
4	RAD21	chr12:30908969-30909388	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:30901889..30903622-chr12:30908915..30911162,2	K562	blood:
2	chr12:30845389..30848478-chr12:30907681..30910609,3	K562	blood:
3	chr12:30908038..30909570-chr12:30918182..30920609,2	K562	blood:
4	chr12:30906304..30909589-chr12:30948532..30951386,3	K562	blood:

No data

Variant related genes	Relation type
CAPRIN2	TF binding region
ENSG00000133704	Chromatin interaction
ENSG00000235884	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10734791	0.84[ASN][1000 genomes]
rs10743734	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10771754	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10771758	0.81[ASN][1000 genomes]
rs10771759	0.84[ASN][1000 genomes]
rs10771764	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10771769	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051013	0.81[EUR][1000 genomes]
rs11051052	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12370429	0.84[AMR][1000 genomes]
rs13656	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1371049	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1371053	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1866416	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2099661	0.81[ASN][1000 genomes]
rs2289301	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2304630	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2352217	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs33132	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3782685	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4930935	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4930936	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6487932	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6487933	0.81[AMR][1000 genomes]
rs7136079	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs718368	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7297455	0.86[ASN][1000 genomes]
rs7298007	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7298180	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7304879	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7304976	0.81[AMR][1000 genomes]
rs7311651	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963494	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7968587	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9300199	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10743733	IPO8	cis	Artery Tibial	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30908600-30909800	Enhancers	K562	blood
2	chr12:30908600-30911400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:30908800-30909400	Enhancers	Liver	Liver
4	chr12:30908800-30909800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:30908800-30915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30909200-30909400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:30909200-30909400	Enhancers	Left Ventricle	heart
8	chr12:30909200-30909600	Enhancers	Pancreas	Pancrea
9	chr12:30909200-30914800	Weak transcription	HepG2	liver

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