Variant report

Variant	esv3379940
Chromosome Location	chr15:75547199-75551097
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	chr15:75550815-75550962	GM12878	blood:	n/a	n/a
2	EBF1	chr15:75550639-75550832	GM12878	blood:	n/a	n/a
3	EBF1	chr15:75550624-75550905	GM12878	blood:	n/a	n/a
4	FOSL2	chr15:75549370-75549935	HepG2	liver:	n/a	n/a
5	FOSL2	chr15:75548264-75548550	HepG2	liver:	n/a	n/a
6	FOXA1	chr15:75549485-75550011	HepG2	liver:	n/a	n/a
7	GABPA	chr15:75549299-75549685	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr15:75548291-75548625	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr15:75550651-75551099	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr15:75548253-75548362	Hela-S3	cervix:	n/a	n/a
11	GATA2	chr15:75546856-75547208	K562	blood:	n/a	chr15:75546908-75546915 chr15:75547022-75547034
12	HEY1	chr15:75550827-75551047	HepG2	liver:	n/a	n/a
13	HEY1	chr15:75550746-75551032	K562	blood:	n/a	n/a
14	IRF4	chr15:75550623-75550958	GM12878	blood:	n/a	n/a
15	JUND	chr15:75547104-75547208	HepG2	liver:	n/a	n/a
16	JUND	chr15:75549574-75549812	HepG2	liver:	n/a	n/a
17	PAX5	chr15:75550638-75551112	GM12878	blood:	n/a	chr15:75550786-75550805
18	PAX5	chr15:75550620-75551063	GM12878	blood:	n/a	chr15:75550786-75550805
19	POLR2A	chr15:75550470-75552057	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr15:75550702-75551106	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:75550635-75551907	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:75550654-75551300	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:75546351-75547470	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:75550721-75550992	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr15:75550718-75551054	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr15:75549466-75549940	H1-hESC	embryonic stem cell:	n/a	n/a
27	POU2F2	chr15:75550609-75551540	GM12878	blood:	n/a	n/a
28	RXRA	chr15:75549277-75549744	HepG2	liver:	n/a	n/a
29	RXRA	chr15:75549544-75549892	HepG2	liver:	n/a	n/a
30	RXRA	chr15:75546814-75547338	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr15:75549724-75549911	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr15:75549649-75549747	HepG2	liver:	n/a	n/a
33	SP1	chr15:75549366-75549933	HepG2	liver:	n/a	n/a
34	SP1	chr15:75550586-75551075	GM12878	blood:	n/a	chr15:75550694-75550706 chr15:75550695-75550709 chr15:75550845-75550855 chr15:75550696-75550705 chr15:75550695-75550705 chr15:75550694-75550706 chr15:75550788-75550798 chr15:75550845-75550855 chr15:75550819-75550840 chr15:75550695-75550705 chr15:75550695-75550704 chr15:75550695-75550704
35	SP1	chr15:75550626-75550945	GM12878	blood:	n/a	chr15:75550694-75550706 chr15:75550695-75550709 chr15:75550845-75550855 chr15:75550696-75550705 chr15:75550695-75550705 chr15:75550694-75550706 chr15:75550788-75550798 chr15:75550845-75550855 chr15:75550819-75550840 chr15:75550695-75550705 chr15:75550695-75550704 chr15:75550695-75550704
36	SPI1	chr15:75550804-75550990	K562	blood:	n/a	n/a
37	TAF1	chr15:75550648-75551329	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr15:75550804-75551005	Hela-S3	cervix:	n/a	n/a
39	TAF1	chr15:75550615-75551506	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAF1	chr15:75550722-75551065	Hela-S3	cervix:	n/a	n/a
41	TCF3	chr15:75551027-75551270	GM12878	blood:	n/a	n/a
42	USF1	chr15:75550637-75550889	HepG2	liver:	n/a	n/a
43	USF1	chr15:75547174-75547318	HepG2	liver:	n/a	chr15:75547252-75547263
44	ZBTB33	chr15:75549328-75549597	K562	blood:	n/a	n/a
45	ZBTB33	chr15:75548305-75548512	K562	blood:	n/a	n/a
46	ZBTB33	chr15:75549274-75549514	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
NIFKP4	TF binding region
GOLGA6C	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111542737	chr15:75547232-75547233	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs375140823	chr15:75547259-75547260	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs368107480	chr15:75547280-75547281	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs559830136	chr15:75547351-75547352	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs530150069	chr15:75547457-75547458	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs112080841	chr15:75547459-75547460	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs200490445	chr15:75550684-75550685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571546647	chr15:75550787-75550788	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	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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