Variant report

Variant	esv3420472
Chromosome Location	chr9:43102956-43107854
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	chr9:43103998-43104331	GM12878	blood:	n/a	chr9:43104053-43104061
2	BATF	chr9:43103941-43104337	GM12878	blood:	n/a	chr9:43104053-43104061
3	BCL11A	chr9:43103879-43104324	GM12878	blood:	n/a	n/a
4	BCL11A	chr9:43103921-43104207	GM12878	blood:	n/a	n/a
5	EBF1	chr9:43104144-43104381	GM12878	blood:	n/a	chr9:43104154-43104163
6	EBF1	chr9:43105264-43105473	GM12878	blood:	n/a	n/a
7	EBF1	chr9:43105855-43106092	GM12878	blood:	n/a	n/a
8	EP300	chr9:43105739-43106051	GM12878	blood:	n/a	n/a
9	GABPA	chr9:43106450-43106658	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr9:43106911-43107177	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr9:43105805-43106069	Hela-S3	cervix:	n/a	n/a
12	GATA2	chr9:43106338-43106638	K562	blood:	n/a	n/a
13	GATA2	chr9:43104100-43104349	K562	blood:	n/a	n/a
14	IRF4	chr9:43103870-43104360	GM12878	blood:	n/a	chr9:43104160-43104174
15	IRF4	chr9:43105727-43106026	GM12878	blood:	n/a	n/a
16	IRF4	chr9:43103936-43104337	GM12878	blood:	n/a	chr9:43104160-43104174
17	IRF4	chr9:43104800-43105147	GM12878	blood:	n/a	n/a
18	PAX5	chr9:43105777-43106216	GM12878	blood:	n/a	n/a
19	PAX5	chr9:43106430-43106657	GM12878	blood:	n/a	n/a
20	PBX3	chr9:43106438-43106551	GM12878	blood:	n/a	n/a
21	POU2F2	chr9:43103889-43104378	GM12878	blood:	n/a	n/a
22	POU2F2	chr9:43104021-43104166	GM12878	blood:	n/a	n/a
23	POU2F2	chr9:43105768-43106190	GM12878	blood:	n/a	n/a
24	POU2F2	chr9:43104198-43104354	GM12878	blood:	n/a	n/a
25	RXRA	chr9:43105660-43106191	HepG2	liver:	n/a	n/a
26	SIN3AK20	chr9:43106423-43106540	HepG2	liver:	n/a	n/a
27	SIX5	chr9:43106849-43107182	GM12878	blood:	n/a	n/a
28	SP1	chr9:43103883-43104415	GM12878	blood:	n/a	n/a
29	SP1	chr9:43105611-43105872	GM12878	blood:	n/a	n/a
30	SP1	chr9:43102738-43103003	GM12878	blood:	n/a	n/a
31	TCF3	chr9:43105208-43105470	GM12878	blood:	n/a	n/a
32	USF1	chr9:43104225-43104337	HepG2	liver:	n/a	n/a
33	ZBTB33	chr9:43104085-43104415	K562	blood:	n/a	n/a
34	ZBTB33	chr9:43105828-43106171	GM12878	blood:	n/a	n/a
35	ZBTB33	chr9:43105526-43105820	K562	blood:	n/a	n/a

Variant related genes	Relation type
ANKRD20A3	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6605842	chr9:43103948-43103949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs10123101	chr9:43104132-43104133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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