Variant report

Variant	esv989039
Chromosome Location	chr14:42324200-42328009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575249840	chr14:42324607-42324608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556691765	chr14:42324610-42324611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145998899	chr14:42324614-42324615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77278137	chr14:42324632-42324633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554938667	chr14:42324660-42324661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2899930	chr14:42324719-42324720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536386825	chr14:42324754-42324755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370540350	chr14:42324757-42324758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11844701	chr14:42324779-42324780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139994009	chr14:42324803-42324804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142198253	chr14:42324843-42324844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544646219	chr14:42324856-42324857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187681290	chr14:42324858-42324859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572621166	chr14:42324864-42324865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572173482	chr14:42324893-42324894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548160327	chr14:42324907-42324908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35762436	chr14:42324912-42324913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566848411	chr14:42324940-42324941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72670403	chr14:42325058-42325059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552365853	chr14:42325061-42325062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570668176	chr14:42325092-42325093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538054284	chr14:42325138-42325139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117767939	chr14:42325174-42325175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371536378	chr14:42325184-42325185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191757480	chr14:42325210-42325211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542635253	chr14:42325236-42325237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536273599	chr14:42325263-42325264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139007383	chr14:42325323-42325324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73303314	chr14:42325366-42325367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534038072	chr14:42325371-42325372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558787595	chr14:42325373-42325374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577012718	chr14:42325385-42325386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561362962	chr14:42325390-42325391	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Bipolar disorder	19114987	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42324600-42325400	Enhancers	Pancreatic Islets	Pancreatic Islet

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