Variant report

Variant	rs10771769
Chromosome Location	chr12:30910280-30910281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr12:30909719-30910774	K562	blood:	n/a	n/a
2	STAT5A	chr12:30910168-30910652	K562	blood:	n/a	n/a
3	GATA2	chr12:30910166-30910689	K562	blood:	n/a	n/a
4	PML	chr12:30910181-30910612	K562	blood:	n/a	n/a
5	MXI1	chr12:30910037-30910499	K562	blood:	n/a	n/a
6	HMGN3	chr12:30910249-30910597	K562	blood:	n/a	n/a
7	TAL1	chr12:30909918-30910700	K562	blood:	n/a	n/a
8	STAT5A	chr12:30910240-30910597	K562	blood:	n/a	n/a
9	CEBPD	chr12:30910244-30910734	K562	blood:	n/a	n/a
10	TRIM28	chr12:30910183-30910697	K562	blood:	n/a	n/a
11	TEAD4	chr12:30910220-30910701	K562	blood:	n/a	n/a
12	JUND	chr12:30909939-30910587	K562	blood:	n/a	chr12:30910495-30910504 chr12:30910557-30910569
13	RCOR1	chr12:30910073-30910565	K562	blood:	n/a	n/a
14	PML	chr12:30910209-30910576	K562	blood:	n/a	n/a
15	TBL1XR1	chr12:30909915-30910611	K562	blood:	n/a	n/a
16	SPI1	chr12:30910266-30910512	GM12878	blood:	n/a	n/a
17	MAFK	chr12:30910138-30910503	K562	blood:	n/a	n/a
18	CEBPD	chr12:30910231-30910695	K562	blood:	n/a	n/a
19	CCNT2	chr12:30910253-30910596	K562	blood:	n/a	n/a
20	GATA1	chr12:30909225-30910827	PBDE	blood:	n/a	n/a
21	ARID3A	chr12:30909897-30910593	K562	blood:	n/a	n/a
22	NR2F2	chr12:30910233-30910630	K562	blood:	n/a	n/a
23	MYC	chr12:30910120-30910649	K562	blood:	n/a	n/a
24	CEBPB	chr12:30910256-30910608	K562	blood:	n/a	n/a
25	MYC	chr12:30910268-30910671	K562	blood:	n/a	n/a
26	TEAD4	chr12:30910190-30910697	K562	blood:	n/a	n/a
27	POLR2A	chr12:30909641-30910682	PBDE	blood:	n/a	n/a
28	GATA1	chr12:30909837-30910843	K562	blood:	n/a	n/a
29	EP300	chr12:30909890-30910659	K562	blood:	n/a	n/a
30	POLR2A	chr12:30910082-30910349	GM12878	blood:	n/a	n/a

No data

(count:3 , 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	chr12:30910152..30913762-chr12:30918639..30921470,3	MCF-7	breast:

No data

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

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10734791	0.85[ASN][1000 genomes]
rs10743733	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743734	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771754	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10771758	0.81[ASN][1000 genomes]
rs10771759	0.85[ASN][1000 genomes]
rs10771764	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051013	0.84[EUR][1000 genomes]
rs11051052	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12370429	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13656	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1371049	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1371053	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1866416	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2099661	0.83[ASN][1000 genomes]
rs2289301	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2304630	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2352210	0.82[EUR][1000 genomes]
rs2352217	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33132	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3782685	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4143103	0.82[EUR][1000 genomes]
rs4930935	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4930936	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4931356	0.81[EUR][1000 genomes]
rs6487932	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6487933	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7136079	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718368	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297455	0.86[ASN][1000 genomes]
rs7298007	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7298180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304879	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7304976	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7311651	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7963494	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7968587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9300199	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[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
rs10771769	IPO8	cis	multi-tissue	Pritchard
rs10771769	IPO8	cis	Artery Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30908600-30911400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:30908800-30915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:30909200-30914800	Weak transcription	HepG2	liver
4	chr12:30909600-30915800	Weak transcription	Pancreas	Pancrea
5	chr12:30909800-30910800	Flanking Active TSS	K562	blood

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