Variant report

Variant	esv2520634
Chromosome Location	chr9:10094-10104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:9979-10330	GM12878	blood:	n/a	n/a
2	BCL11A	chr9:9980-10551	GM12878	blood:	n/a	n/a
3	BCL11A	chr9:10065-10484	GM12878	blood:	n/a	n/a
4	CBX3	chr9:9977-11030	K562	blood:	n/a	n/a
5	CBX3	chr9:10001-10736	K562	blood:	n/a	n/a
6	CEBPB	chr9:9911-10511	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr9:9953-10625	GM12878	blood:	n/a	n/a
8	EP300	chr9:10065-10601	GM12878	blood:	n/a	n/a
9	FOSL2	chr9:9945-10509	HepG2	liver:	n/a	n/a
10	FOSL2	chr9:9975-26973	HepG2	liver:	n/a	chr9:14084-14095 chr9:14953-14964 chr9:12952-12961 chr9:23521-23533 chr9:22018-22027 chr9:25770-25779 chr9:24597-24604 chr9:23519-23530 chr9:23523-23531 chr9:19839-19851
11	FOXM1	chr9:10019-10519	GM12878	blood:	n/a	n/a
12	IRF4	chr9:9944-10578	GM12878	blood:	n/a	n/a
13	IRF4	chr9:9942-10507	GM12878	blood:	n/a	n/a
14	MAFF	chr9:9999-10511	K562	blood:	n/a	n/a
15	NFIC	chr9:9967-10576	GM12878	blood:	n/a	n/a
16	NR2F2	chr9:9978-10487	K562	blood:	n/a	n/a
17	NR2F2	chr9:9928-10493	K562	blood:	n/a	n/a
18	PAX5	chr9:9986-10131	GM12878	blood:	n/a	n/a
19	PAX5	chr9:9991-10555	GM12878	blood:	n/a	n/a
20	PAX5	chr9:9928-10923	GM12878	blood:	n/a	n/a
21	PAX5	chr9:10055-10593	GM12878	blood:	n/a	n/a
22	PBX3	chr9:10008-10453	GM12878	blood:	n/a	n/a
23	PBX3	chr9:10003-10145	GM12878	blood:	n/a	n/a
24	POLR2A	chr9:9899-10554	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr9:9911-10472	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr9:9966-10433	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr9:9933-10526	GM12891	blood:	n/a	n/a
28	POLR2A	chr9:9983-10272	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr9:9973-10475	GM12878	blood:	n/a	n/a
30	POLR2A	chr9:9957-10625	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr9:9935-10577	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr9:9937-10601	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr9:9952-10586	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr9:9843-11118	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr9:9936-10530	U87	brain:	n/a	n/a
36	POLR2A	chr9:9937-10518	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr9:10016-10293	HL-60	blood:	n/a	n/a
38	POLR2A	chr9:9939-10658	GM12878	blood:	n/a	n/a
39	POLR2A	chr9:10056-10518	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr9:9921-10648	GM12892	blood:	n/a	n/a
41	POLR2A	chr9:9981-10450	U87	brain:	n/a	n/a
42	POLR2A	chr9:9915-10635	GM12891	blood:	n/a	n/a
43	POLR2A	chr9:9913-10581	U87	brain:	n/a	n/a
44	POU2F2	chr9:9898-10640	GM12891	blood:	n/a	n/a
45	POU2F2	chr9:9958-26894	GM12878	blood:	n/a	chr9:26236-26248 chr9:26237-26247 chr9:24338-24360 chr9:24344-24358 chr9:12470-12482 chr9:21047-21058 chr9:18236-18248 chr9:26236-26250 chr9:26235-26250 chr9:26104-26118 chr9:17963-17975
46	POU2F2	chr9:9999-10117	GM12878	blood:	n/a	n/a
47	POU2F2	chr9:9968-10936	GM12891	blood:	n/a	n/a
48	REST	chr9:10062-10343	GM12878	blood:	n/a	n/a
49	RUNX3	chr9:10068-10390	GM12878	blood:	n/a	n/a
50	RXRA	chr9:9930-10729	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DDX11L5	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 80 )

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	rs566619225	chr9:10094-10095	Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs563097040	chr9:10098-10099	Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs199692280	chr9:10099-10100	Active TSS ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8800-14200	Weak transcription	Fetal Heart	heart
2	chr9:10000-10400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:10000-10600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr9:10000-11000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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