Variant report

Variant	esv3414099
Chromosome Location	chr14:72462637-72462882
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	EBF1	chr14:72462614-72462838	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000257040	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554299643	chr14:72462653-72462654	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139292940	chr14:72462688-72462689	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs187885645	chr14:72462689-72462690	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs555837497	chr14:72462691-72462692	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs11623588	chr14:72462694-72462695	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs191441382	chr14:72462695-72462696	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs183645062	chr14:72462731-72462732	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540008182	chr14:72462739-72462740	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577498426	chr14:72462747-72462748	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs545311062	chr14:72462788-72462789	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs117361733	chr14:72462792-72462793	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs530538435	chr14:72462795-72462796	Genic enhancers Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558739078	chr14:72462808-72462809	Genic enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs542311104	chr14:72462845-72462846	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200736566	chr14:72462873-72462874	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78138927	chr14:72462875-72462876	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72462000-72462800	Enhancers	Left Ventricle	heart
2	chr14:72462000-72462800	Enhancers	Right Ventricle	heart
3	chr14:72462200-72463000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:72462600-72465200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72462800-72463600	Weak transcription	Left Ventricle	heart
6	chr14:72462800-72467200	Weak transcription	Right Ventricle	heart

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