Variant report

Variant	esv3451104
Chromosome Location	chr15:72936098-72944596
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	CTCF	chr15:72939576-72939649	GM13976	blood:	n/a	n/a
2	FOSL2	chr15:72942463-72943236	HepG2	liver:	n/a	n/a
3	FOSL2	chr15:72944403-72944689	HepG2	liver:	n/a	n/a
4	FOSL2	chr15:72941321-72941647	HepG2	liver:	n/a	n/a
5	FOSL2	chr15:72939404-72939700	HepG2	liver:	n/a	n/a
6	FOXA1	chr15:72942336-72943028	HepG2	liver:	n/a	n/a
7	FOXP2	chr15:72942612-72942867	SK-N-MC	brain:	n/a	n/a
8	GABPA	chr15:72940560-72940854	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr15:72944430-72944764	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr15:72940746-72940860	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr15:72942625-72942942	Hela-S3	cervix:	n/a	n/a
12	GABPA	chr15:72944392-72944501	Hela-S3	cervix:	n/a	n/a
13	GATA2	chr15:72942938-72943321	K562	blood:	n/a	chr15:72943161-72943173 chr15:72943047-72943054
14	HEY1	chr15:72942599-72942898	HepG2	liver:	n/a	n/a
15	JUND	chr15:72942578-72942887	HepG2	liver:	n/a	n/a
16	JUND	chr15:72942566-72942794	HepG2	liver:	n/a	n/a
17	JUND	chr15:72943244-72943348	HepG2	liver:	n/a	n/a
18	PAX5	chr15:72941366-72941821	GM12878	blood:	n/a	chr15:72941409-72941418
19	POLR2A	chr15:72940657-72940877	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:72936438-72936651	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:72942322-72943610	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:72939068-72939077	Gliobla	brain:	n/a	n/a
23	POLR2A	chr15:72936394-72937008	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:72942548-72943249	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr15:72939312-72939764	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr15:72942962-72943284	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr15:72942623-72943063	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr15:72936451-72936640	GM12878	blood:	n/a	n/a
29	POLR2A	chr15:72936344-72936379	K562	blood:	n/a	n/a
30	POU2F2	chr15:72942575-72943270	GM12878	blood:	n/a	n/a
31	POU2F2	chr15:72938708-72939061	GM12878	blood:	n/a	chr15:72938914-72938926
32	POU2F2	chr15:72939293-72939718	GM12878	blood:	n/a	n/a
33	RXRA	chr15:72942507-72942914	HepG2	liver:	n/a	chr15:72942805-72942814
34	RXRA	chr15:72942612-72943478	HepG2	liver:	n/a	chr15:72942805-72942814
35	SIN3AK20	chr15:72942636-72942751	HepG2	liver:	n/a	n/a
36	SIN3AK20	chr15:72942497-72942803	HepG2	liver:	n/a	n/a
37	SP1	chr15:72942418-72943005	HepG2	liver:	n/a	n/a
38	SPI1	chr15:72942565-72942936	GM12891	blood:	n/a	chr15:72942748-72942757 chr15:72942746-72942759
39	SPI1	chr15:72942556-72942897	GM12878	blood:	n/a	chr15:72942748-72942757 chr15:72942746-72942759
40	SPI1	chr15:72942638-72942879	K562	blood:	n/a	chr15:72942748-72942757 chr15:72942746-72942759
41	SPI1	chr15:72942611-72943142	GM12891	blood:	n/a	chr15:72943095-72943108 chr15:72942748-72942757 chr15:72943096-72943109 chr15:72942746-72942759
42	SPI1	chr15:72942575-72942885	K562	blood:	n/a	chr15:72942748-72942757 chr15:72942746-72942759
43	SPI1	chr15:72942657-72942791	GM12878	blood:	n/a	chr15:72942748-72942757 chr15:72942746-72942759
44	TCF12	chr15:72942635-72942832	GM12878	blood:	n/a	n/a
45	TCF12	chr15:72942562-72942864	HepG2	liver:	n/a	n/a
46	USF1	chr15:72943314-72943450	HepG2	liver:	n/a	chr15:72943392-72943403
47	USF1	chr15:72942578-72942935	HepG2	liver:	n/a	n/a
48	ZBTB33	chr15:72944444-72944651	K562	blood:	n/a	n/a
49	ZBTB33	chr15:72942500-72942894	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
GOLGA6B	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3869336	chr15:72942822-72942823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs28461654	chr15:72943176-72943177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs561194991	chr15:72943195-72943196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531621805	chr15:72943223-72943224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs550119399	chr15:72943239-72943240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs200189264	chr15:72943240-72943241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Lung cancer	18438408	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	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
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	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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