Variant report

Variant	esv9641
Chromosome Location	chr14:47433880-47434646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75726359	chr14:47433883-47433884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553894178	chr14:47433900-47433901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576969597	chr14:47433917-47433918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546026658	chr14:47433929-47433930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113520899	chr14:47433939-47433940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77689938	chr14:47433962-47433963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78225290	chr14:47433971-47433972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562087070	chr14:47433974-47433975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114509835	chr14:47433993-47433994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539669967	chr14:47434006-47434007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547919719	chr14:47434019-47434020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190942533	chr14:47434066-47434067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78276346	chr14:47434070-47434071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181981105	chr14:47434095-47434096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549772856	chr14:47434120-47434121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368284495	chr14:47434123-47434124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185166164	chr14:47434166-47434167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149583482	chr14:47434174-47434175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142657238	chr14:47434185-47434186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191055156	chr14:47434188-47434189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113584808	chr14:47434208-47434209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570234672	chr14:47434221-47434222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535065186	chr14:47434263-47434264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535770639	chr14:47434324-47434325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371830263	chr14:47434368-47434369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554112428	chr14:47434373-47434374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567729198	chr14:47434421-47434422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113760768	chr14:47434445-47434446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575217602	chr14:47434476-47434477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140233463	chr14:47434517-47434518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58199846	chr14:47434543-47434544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145836067	chr14:47434608-47434609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	19907438	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47430000-47437000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:47433200-47434000	Enhancers	Liver	Liver

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