Variant report

Variant	esv13080
Chromosome Location	chr5:8214057-8215449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10037687	chr5:8214073-8214074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548828791	chr5:8214104-8214105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568901367	chr5:8214122-8214123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34201869	chr5:8214154-8214155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551191073	chr5:8214178-8214179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10035204	chr5:8214218-8214219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182837138	chr5:8214281-8214282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11738766	chr5:8214282-8214283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368248613	chr5:8214290-8214291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10038291	chr5:8214296-8214297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147870402	chr5:8214340-8214341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575719569	chr5:8214341-8214342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10038296	chr5:8214344-8214345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186360597	chr5:8214354-8214355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199936601	chr5:8214375-8214376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11738802	chr5:8214384-8214385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79430929	chr5:8214386-8214387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35867670	chr5:8214397-8214398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71844045	chr5:8214398-8214399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560812286	chr5:8214434-8214435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528898840	chr5:8214439-8214440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371686671	chr5:8214506-8214507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191257315	chr5:8214515-8214516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562324750	chr5:8214561-8214562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115248377	chr5:8214563-8214564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564682332	chr5:8214624-8214625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551020972	chr5:8214636-8214637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183493248	chr5:8214651-8214652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188577956	chr5:8214660-8214661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140238161	chr5:8214732-8214733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11134295	chr5:8214759-8214760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11134296	chr5:8214793-8214794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372818993	chr5:8214798-8214799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559512481	chr5:8214813-8214814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555775829	chr5:8214828-8214829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11134297	chr5:8214841-8214842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538354728	chr5:8214848-8214849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145649428	chr5:8214849-8214850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116224843	chr5:8214852-8214853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11134298	chr5:8214996-8214997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8213200-8214600	Enhancers	Brain Cingulate Gyrus	brain
2	chr5:8213400-8214200	Enhancers	Brain Anterior Caudate	brain
3	chr5:8213400-8214400	Enhancers	Brain Substantia Nigra	brain
4	chr5:8213600-8215000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr5:8213800-8214200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:8213800-8214400	Enhancers	Brain Hippocampus Middle	brain
7	chr5:8214000-8214200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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