Variant report

Variant	esv3437743
Chromosome Location	chr5:8916152-8920750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151034829	chr5:8916253-8916254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554173590	chr5:8916260-8916261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574337071	chr5:8916266-8916267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6882376	chr5:8916304-8916305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs143880937	chr5:8916358-8916359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10512995	chr5:8916360-8916361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192127801	chr5:8916369-8916370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199970761	chr5:8916459-8916460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34281372	chr5:8916462-8916463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559577033	chr5:8916481-8916482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201019257	chr5:8916500-8916501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs33935627	chr5:8916501-8916502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72534149	chr5:8916502-8916503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397818516	chr5:8916503-8916504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183596916	chr5:8916515-8916516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10512996	chr5:8916550-8916551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542273654	chr5:8916586-8916587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16881665	chr5:8916619-8916620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566017046	chr5:8916697-8916698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530005602	chr5:8916702-8916703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6863614	chr5:8916739-8916740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374161946	chr5:8916846-8916847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570216055	chr5:8916884-8916885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74804758	chr5:8916889-8916890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539312500	chr5:8916904-8916905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2963353	chr5:8916950-8916951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146867378	chr5:8916958-8916959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143289762	chr5:8916962-8916963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534447146	chr5:8916963-8916964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554210782	chr5:8916968-8916969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62356640	chr5:8916981-8916982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34383044	chr5:8917007-8917008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34186289	chr5:8917041-8917042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543004237	chr5:8917042-8917043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557231530	chr5:8917049-8917050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577102287	chr5:8917081-8917082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546115447	chr5:8917088-8917089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16881667	chr5:8917183-8917184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529486464	chr5:8917430-8917431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573057764	chr5:8917469-8917470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140668335	chr5:8917474-8917475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75071562	chr5:8917580-8917581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67297719	chr5:8917716-8917717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11275770	chr5:8917719-8917720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373031206	chr5:8917721-8917722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372117968	chr5:8917754-8917755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376801626	chr5:8917756-8917757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369677794	chr5:8917757-8917758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150442743	chr5:8917812-8917813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530118136	chr5:8917817-8917818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8912800-8935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:8918000-8918800	Enhancers	Esophagus	oesophagus
3	chr5:8918600-8918800	Enhancers	Spleen	Spleen
4	chr5:8918800-8919000	Enhancers	Fetal Lung	lung
5	chr5:8918800-8919400	Weak transcription	Esophagus	oesophagus
6	chr5:8919600-8919800	Enhancers	Fetal Lung	lung

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