Variant report

Variant	esv2504335
Chromosome Location	chr14:63786526-63787857
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	FOXA2	chr14:63787251-63787592	A549	lung:	n/a	n/a
2	MAFF	chr14:63787061-63787261	HepG2	liver:	n/a	chr14:63787143-63787161
3	MAFK	chr14:63786991-63787253	HepG2	liver:	n/a	chr14:63787148-63787159 chr14:63787149-63787160 chr14:63787144-63787159 chr14:63787149-63787160
4	MAFK	chr14:63786988-63787258	HepG2	liver:	n/a	chr14:63787148-63787159 chr14:63787149-63787160 chr14:63787144-63787159 chr14:63787149-63787160

Variant related genes	Relation type
GPHB5	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542174400	chr14:63786999-63787000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs186438413	chr14:63787115-63787116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs8006562	chr14:63787140-63787141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs1266713	chr14:63787171-63787172	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150576313	chr14:63787184-63787185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs59456872	chr14:63787215-63787216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551991263	chr14:63787233-63787234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs180819411	chr14:63787240-63787241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs534335709	chr14:63787257-63787258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs139625940	chr14:63787357-63787358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs375150710	chr14:63787473-63787474	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145899524	chr14:63787475-63787476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs61079739	chr14:63787477-63787478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs71425337	chr14:63787483-63787484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs5029911	chr14:63787491-63787492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs1964832	chr14:63787501-63787502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201314414	chr14:63787502-63787503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs1268645	chr14:63787519-63787520	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1964833	chr14:63787553-63787554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558125517	chr14:63787561-63787562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs576914096	chr14:63787565-63787566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs143524916	chr14:63787576-63787577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22737080	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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