Variant report

Variant	esv3325225
Chromosome Location	chr14:71309845-71310405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185189877	chr14:71309855-71309856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116029402	chr14:71309904-71309905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74057861	chr14:71309922-71309923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534947534	chr14:71309948-71309949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551609083	chr14:71309985-71309986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552566726	chr14:71309991-71309992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571130178	chr14:71310100-71310101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538608583	chr14:71310109-71310110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556814489	chr14:71310154-71310155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190423331	chr14:71310166-71310167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568688628	chr14:71310192-71310193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1024510	chr14:71310275-71310276	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs551594477	chr14:71310300-71310301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375726458	chr14:71310307-71310308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549590019	chr14:71310327-71310328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150081247	chr14:71310328-71310329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35840891	chr14:71310338-71310339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369444606	chr14:71310371-71310372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374394492	chr14:71310372-71310373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386778634	chr14:71310373-71310374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201390580	chr14:71310377-71310378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200447663	chr14:71310397-71310398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201410576	chr14:71310398-71310399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201954444	chr14:71310399-71310400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	21364760	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71308600-71310400	Enhancers	Fetal Intestine Large	intestine
2	chr14:71309200-71310200	Enhancers	Ovary	ovary
3	chr14:71309200-71310200	Enhancers	HepG2	liver
4	chr14:71309200-71310400	Enhancers	Fetal Intestine Small	intestine
5	chr14:71309200-71310600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:71309200-71310600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:71309200-71310600	Enhancers	Adipose Nuclei	Adipose
8	chr14:71309200-71311400	Enhancers	Right Atrium	heart
9	chr14:71309400-71310000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:71309400-71310200	Enhancers	Fetal Muscle Leg	muscle
11	chr14:71309800-71310200	Enhancers	Aorta	Aorta
12	chr14:71309800-71310200	Enhancers	HSMMtube	muscle
13	chr14:71310200-71323000	Weak transcription	HSMMtube	muscle

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