Variant report

Variant	esv3411961
Chromosome Location	chr15:75553299-75557497
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	chr15:75553856-75554029	GM12878	blood:	n/a	n/a
2	EP300	chr15:75553006-75553351	GM12878	blood:	n/a	n/a
3	EP300	chr15:75553466-75553782	GM12878	blood:	n/a	n/a
4	FOSL2	chr15:75554539-75555072	HepG2	liver:	n/a	n/a
5	GABPA	chr15:75553246-75553366	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr15:75556245-75556744	Hela-S3	cervix:	n/a	n/a
7	GABPA	chr15:75553814-75554055	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr15:75554794-75555450	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr15:75553535-75553748	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr15:75553576-75553705	Hela-S3	cervix:	n/a	n/a
11	IRF4	chr15:75553189-75553464	GM12878	blood:	n/a	n/a
12	JUND	chr15:75554967-75555153	HepG2	liver:	n/a	n/a
13	JUND	chr15:75555552-75555682	HepG2	liver:	n/a	chr15:75555657-75555667
14	PAX5	chr15:75553817-75554046	GM12878	blood:	n/a	n/a
15	PAX5	chr15:75556072-75556291	GM12878	blood:	n/a	n/a
16	PAX5	chr15:75556868-75557204	GM12878	blood:	n/a	n/a
17	PAX5	chr15:75556955-75557162	GM12878	blood:	n/a	n/a
18	POU2F2	chr15:75553435-75554068	GM12878	blood:	n/a	n/a
19	POU2F2	chr15:75554796-75555454	GM12878	blood:	n/a	n/a
20	POU2F2	chr15:75553007-75553378	GM12878	blood:	n/a	n/a
21	POU2F2	chr15:75555982-75556416	GM12878	blood:	n/a	n/a
22	RXRA	chr15:75553423-75553626	HepG2	liver:	n/a	n/a
23	RXRA	chr15:75553662-75554030	HepG2	liver:	n/a	chr15:75553694-75553710
24	RXRA	chr15:75556123-75556457	HepG2	liver:	n/a	n/a
25	SIX5	chr15:75553580-75553803	K562	blood:	n/a	n/a
26	SP1	chr15:75553780-75554077	GM12878	blood:	n/a	n/a
27	SPI1	chr15:75554662-75554861	K562	blood:	n/a	n/a
28	SPI1	chr15:75553204-75553386	GM12878	blood:	n/a	n/a
29	SPI1	chr15:75553585-75553791	K562	blood:	n/a	n/a
30	TAF1	chr15:75553591-75553765	Hela-S3	cervix:	n/a	n/a
31	TCF12	chr15:75553187-75553350	GM12878	blood:	n/a	n/a
32	USF1	chr15:75557432-75557556	HepG2	liver:	n/a	chr15:75557535-75557546
33	USF1	chr15:75557406-75557626	HepG2	liver:	n/a	chr15:75557535-75557546
34	USF1	chr15:75553463-75553620	HepG2	liver:	n/a	n/a
35	USF1	chr15:75553899-75554042	HepG2	liver:	n/a	n/a
36	USF1	chr15:75556462-75556669	HepG2	liver:	n/a	chr15:75556579-75556595 chr15:75556587-75556603
37	ZBTB33	chr15:75553069-75553340	GM12878	blood:	n/a	n/a
38	ZBTB33	chr15:75556434-75556728	K562	blood:	n/a	n/a
39	ZBTB33	chr15:75553729-75554014	GM12878	blood:	n/a	n/a
40	ZBTB33	chr15:75554592-75554842	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RN7SL489P	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201328686	chr15:75556127-75556128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs374912895	chr15:75556927-75556928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201887394	chr15:75557038-75557039	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs62027348	chr15:75557088-75557089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs372600414	chr15:75557136-75557137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564326944	chr15:75557410-75557411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528446792	chr15:75557423-75557424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs375714613	chr15:75557437-75557438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547415331	chr15:75557450-75557451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200390814	chr15:75557467-75557468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs529865262	chr15:75557468-75557469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs369021044	chr15:75557477-75557478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs547965780	chr15:75557496-75557497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs199815577	chr15:75557497-75557498	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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