Variant report

Variant	esv3345323
Chromosome Location	chr9:43110256-43123254
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	chr9:43115481-43115981	GM12878	blood:	n/a	chr9:43115613-43115623
2	BATF	chr9:43115521-43115941	GM12878	blood:	n/a	chr9:43115613-43115623
3	BATF	chr9:43122109-43123723	GM12878	blood:	n/a	n/a
4	BATF	chr9:43122320-43122956	GM12878	blood:	n/a	n/a
5	BATF	chr9:43120659-43120859	GM12878	blood:	n/a	n/a
6	BATF	chr9:43110560-43110802	GM12878	blood:	n/a	n/a
7	BATF	chr9:43117281-43117481	GM12878	blood:	n/a	n/a
8	BATF	chr9:43121791-43122098	GM12878	blood:	n/a	n/a
9	BATF	chr9:43123059-43123716	GM12878	blood:	n/a	n/a
10	BATF	chr9:43121853-43122095	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:43115447-43115909	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:43115505-43115971	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:43117235-43117468	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:43118954-43119243	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:43118855-43119149	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:43121842-43123070	GM12878	blood:	n/a	chr9:43122563-43122572 chr9:43122598-43122607 chr9:43122932-43122941 chr9:43122510-43122519 chr9:43122933-43122942
17	BCL11A	chr9:43116706-43116888	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:43115077-43115379	GM12878	blood:	n/a	n/a
19	BCL11A	chr9:43112726-43112995	GM12878	blood:	n/a	n/a
20	BCL11A	chr9:43122305-43122890	GM12878	blood:	n/a	chr9:43122563-43122572 chr9:43122598-43122607 chr9:43122510-43122519
21	BHLHE40	chr9:43114642-43114882	HepG2	liver:	n/a	n/a
22	CTCF	chr9:43115930-43116224	A549	lung:	n/a	chr9:43116104-43116125 chr9:43116102-43116120
23	CTCF	chr9:43110968-43111012	GM13976	blood:	n/a	n/a
24	EBF1	chr9:43122360-43122822	GM12878	blood:	n/a	n/a
25	EBF1	chr9:43113860-43114092	GM12878	blood:	n/a	n/a
26	EBF1	chr9:43122348-43122834	GM12878	blood:	n/a	n/a
27	EBF1	chr9:43120544-43120976	GM12878	blood:	n/a	n/a
28	EBF1	chr9:43114651-43114893	GM12878	blood:	n/a	n/a
29	EBF1	chr9:43121817-43122094	GM12878	blood:	n/a	n/a
30	EBF1	chr9:43115638-43115881	GM12878	blood:	n/a	n/a
31	EBF1	chr9:43115672-43115892	GM12878	blood:	n/a	n/a
32	EP300	chr9:43114749-43114873	GM12878	blood:	n/a	n/a
33	EP300	chr9:43122314-43122942	GM12878	blood:	n/a	chr9:43122932-43122941
34	EP300	chr9:43114667-43114939	GM12878	blood:	n/a	n/a
35	EP300	chr9:43110528-43110887	GM12878	blood:	n/a	n/a
36	EP300	chr9:43115563-43115946	GM12878	blood:	n/a	chr9:43115615-43115624
37	EP300	chr9:43115135-43115401	GM12878	blood:	n/a	n/a
38	EP300	chr9:43122384-43122788	GM12878	blood:	n/a	n/a
39	EP300	chr9:43122598-43122804	GM12878	blood:	n/a	n/a
40	EP300	chr9:43114322-43114643	GM12878	blood:	n/a	chr9:43114335-43114349
41	EP300	chr9:43121861-43122138	GM12878	blood:	n/a	chr9:43121876-43121890 chr9:43121870-43121884
42	EP300	chr9:43118905-43119297	GM12878	blood:	n/a	n/a
43	EP300	chr9:43123026-43123279	GM12878	blood:	n/a	n/a
44	FOSL2	chr9:43115452-43115793	HepG2	liver:	n/a	chr9:43115616-43115625 chr9:43115615-43115626 chr9:43115615-43115625 chr9:43115615-43115624 chr9:43115614-43115626
45	FOSL2	chr9:43110531-43110758	HepG2	liver:	n/a	n/a
46	FOSL2	chr9:43123029-43123756	HepG2	liver:	n/a	n/a
47	FOSL2	chr9:43114595-43114912	HepG2	liver:	n/a	n/a
48	FOSL2	chr9:43122382-43122658	HepG2	liver:	n/a	chr9:43122431-43122445
49	FOSL2	chr9:43122329-43123756	HepG2	liver:	n/a	chr9:43122934-43122941 chr9:43122933-43122941 chr9:43122431-43122445
50	FOSL2	chr9:43115482-43115793	HepG2	liver:	n/a	chr9:43115616-43115625 chr9:43115615-43115626 chr9:43115615-43115625 chr9:43115615-43115624 chr9:43115614-43115626

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXD4L2-1	chr9:43113254-43113467	ENSG00000237587.1
2	lnc-FOXD4L2-1	chr9:43113254-43113375	ENSG00000237587.1
3	lnc-FOXD4L2-1	chr9:43113254-43113526	ENSG00000237587.2

Variant related genes	Relation type
RNU6-538P	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 67 )

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	rs10796637	chr9:43113254-43113255	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs12552240	chr9:43113287-43113288	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs10737138	chr9:43113336-43113337	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs12555491	chr9:43113396-43113397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs374591405	chr9:43123014-43123015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199548374	chr9:43123248-43123249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs201050372	chr9:43123253-43123254	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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