Variant report

Variant	esv12200
Chromosome Location	chr9:43190629-43213640
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	BCL11A	chr9:43198110-43198378	GM12878	blood:	n/a	n/a
2	BCL11A	chr9:43206096-43206325	GM12878	blood:	n/a	n/a
3	BCL11A	chr9:43209798-43210001	GM12878	blood:	n/a	n/a
4	BCL11A	chr9:43206082-43206341	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:43194748-43194999	GM12878	blood:	n/a	n/a
6	CTCF	chr9:43205712-43205761	Spleen_OC	spleen:	n/a	n/a
7	EBF1	chr9:43198132-43198307	GM12878	blood:	n/a	n/a
8	EBF1	chr9:43212926-43213118	GM12878	blood:	n/a	n/a
9	EBF1	chr9:43204346-43204530	GM12878	blood:	n/a	n/a
10	EP300	chr9:43209871-43210031	GM12878	blood:	n/a	n/a
11	EP300	chr9:43201648-43201955	GM12878	blood:	n/a	n/a
12	EP300	chr9:43199753-43199906	GM12878	blood:	n/a	n/a
13	EP300	chr9:43212618-43212930	GM12878	blood:	n/a	n/a
14	EP300	chr9:43205997-43206377	GM12878	blood:	n/a	n/a
15	FOSL2	chr9:43206080-43206343	HepG2	liver:	n/a	chr9:43206227-43206236
16	FOSL2	chr9:43205615-43205872	HepG2	liver:	n/a	n/a
17	FOSL2	chr9:43201760-43202075	HepG2	liver:	n/a	n/a
18	FOSL2	chr9:43193079-43193414	HepG2	liver:	n/a	n/a
19	FOSL2	chr9:43204295-43204633	HepG2	liver:	n/a	chr9:43204584-43204593
20	FOSL2	chr9:43205165-43205521	HepG2	liver:	n/a	n/a
21	FOSL2	chr9:43212390-43212866	HepG2	liver:	n/a	n/a
22	FOSL2	chr9:43203790-43205017	HepG2	liver:	n/a	chr9:43204723-43204734 chr9:43204584-43204593
23	FOSL2	chr9:43196381-43196873	HepG2	liver:	n/a	chr9:43196491-43196500 chr9:43196642-43196650
24	FOSL2	chr9:43205990-43206426	HepG2	liver:	n/a	chr9:43206227-43206236
25	FOXA1	chr9:43192796-43193345	HepG2	liver:	n/a	n/a
26	GABPA	chr9:43212451-43212687	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr9:43203925-43204056	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr9:43206112-43206267	GM12878	blood:	n/a	n/a
29	IRF4	chr9:43210123-43210509	GM12878	blood:	n/a	chr9:43210380-43210394
30	IRF4	chr9:43204282-43204651	GM12878	blood:	n/a	n/a
31	JUND	chr9:43204390-43204585	HepG2	liver:	n/a	n/a
32	JUND	chr9:43193160-43193392	HepG2	liver:	n/a	n/a
33	JUND	chr9:43212461-43212653	HepG2	liver:	n/a	n/a
34	JUND	chr9:43213504-43213657	HepG2	liver:	n/a	n/a
35	PAX5	chr9:43197953-43198411	GM12878	blood:	n/a	chr9:43198019-43198028
36	PAX5	chr9:43206131-43206346	GM12878	blood:	n/a	n/a
37	PAX5	chr9:43212413-43212712	GM12878	blood:	n/a	n/a
38	PAX5	chr9:43212291-43212741	GM12878	blood:	n/a	n/a
39	PBX3	chr9:43212594-43212730	GM12878	blood:	n/a	n/a
40	PBX3	chr9:43204401-43204542	GM12878	blood:	n/a	n/a
41	PBX3	chr9:43193225-43193353	GM12878	blood:	n/a	n/a
42	PBX3	chr9:43213513-43213635	GM12878	blood:	n/a	n/a
43	POLR2A	chr9:43201890-43202029	ProgFib	skin:	n/a	n/a
44	POU2F2	chr9:43191767-43192286	GM12878	blood:	n/a	n/a
45	POU2F2	chr9:43212271-43212864	GM12878	blood:	n/a	n/a
46	POU2F2	chr9:43192685-43192998	GM12878	blood:	n/a	n/a
47	POU2F2	chr9:43206065-43206409	GM12878	blood:	n/a	n/a
48	POU2F2	chr9:43191414-43191748	GM12878	blood:	n/a	n/a
49	POU2F2	chr9:43201607-43202041	GM12878	blood:	n/a	n/a
50	RXRA	chr9:43212385-43212734	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000236322	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2988196	chr9:43190664-43190665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs199500061	chr9:43191425-43191426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201329009	chr9:43191553-43191554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs199513679	chr9:43191585-43191586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200501919	chr9:43191599-43191600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs112469482	chr9:43192725-43192726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs3135452	chr9:43193196-43193197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	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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