Variant report

Variant	esv15004
Chromosome Location	chr14:25536352-25537322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7147583	chr14:25536371-25536372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573301255	chr14:25536415-25536416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191464005	chr14:25536424-25536425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567457960	chr14:25536470-25536471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537490806	chr14:25536512-25536513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182170261	chr14:25536522-25536523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556427313	chr14:25536546-25536547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376394590	chr14:25536561-25536562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7149869	chr14:25536570-25536571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187886185	chr14:25536708-25536709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559001985	chr14:25536710-25536711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575766987	chr14:25536736-25536737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544846714	chr14:25536737-25536738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560948838	chr14:25536779-25536780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17109558	chr14:25536822-25536823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540229536	chr14:25536831-25536832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560045688	chr14:25536897-25536898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146759399	chr14:25536940-25536941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572463508	chr14:25536949-25536950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192413536	chr14:25536967-25536968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552411654	chr14:25536982-25536983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140316748	chr14:25536995-25536996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145504901	chr14:25537070-25537071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548025752	chr14:25537078-25537079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146451166	chr14:25537093-25537094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536301419	chr14:25537148-25537149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28572295	chr14:25537165-25537166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149068146	chr14:25537171-25537172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557066634	chr14:25537185-25537186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113290962	chr14:25537228-25537229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10546583	chr14:25537235-25537236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368873750	chr14:25537242-25537243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567400370	chr14:25537253-25537254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559180868	chr14:25537270-25537271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575883443	chr14:25537308-25537309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538430466	chr14:25537312-25537313	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25535000-25536800	Enhancers	Brain Germinal Matrix	brain
2	chr14:25536600-25537000	Enhancers	Brain Cingulate Gyrus	brain
3	chr14:25537000-25537800	Enhancers	HSMM	muscle
4	chr14:25537000-25537800	Enhancers	HSMMtube	muscle

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