Variant report

Variant	esv14333
Chromosome Location	chr14:43182920-43185287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557717221	chr14:43184418-43184419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571460719	chr14:43184435-43184436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550783717	chr14:43184448-43184449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1630511	chr14:43184455-43184456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530434118	chr14:43184486-43184487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369819312	chr14:43184507-43184508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74047792	chr14:43184509-43184510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567151639	chr14:43184510-43184511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35201686	chr14:43184519-43184520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552591837	chr14:43184576-43184577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570975480	chr14:43184589-43184590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538315929	chr14:43184616-43184617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10151562	chr14:43184629-43184630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1712697	chr14:43184636-43184637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74484414	chr14:43184668-43184669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554592405	chr14:43184678-43184679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556480602	chr14:43184687-43184688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111475235	chr14:43184726-43184727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573077134	chr14:43184731-43184732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563170556	chr14:43184744-43184745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74047793	chr14:43184760-43184761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140397350	chr14:43184775-43184776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190646363	chr14:43184847-43184848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1698521	chr14:43184855-43184856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372714427	chr14:43184862-43184863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530277132	chr14:43184888-43184889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181128137	chr14:43184902-43184903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185619553	chr14:43184925-43184926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149954638	chr14:43184961-43184962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61992799	chr14:43185084-43185085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552627524	chr14:43185097-43185098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200827224	chr14:43185138-43185139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570814692	chr14:43185196-43185197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531725747	chr14:43185234-43185235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550342550	chr14:43185236-43185237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199526238	chr14:43185252-43185253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146438065	chr14:43185277-43185278	Enhancers	n/a	n/a	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
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
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43184400-43184600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr14:43184400-43185000	Enhancers	NHEK	skin
3	chr14:43184400-43185400	Enhancers	HUVEC	blood vessel
4	chr14:43184600-43185000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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