Variant report

Variant	esv3344683
Chromosome Location	chr5:35713920-35714302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375878206	chr5:35713923-35713924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377722051	chr5:35713924-35713925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367992979	chr5:35713930-35713931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62351905	chr5:35713931-35713932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371279254	chr5:35713950-35713951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374102908	chr5:35713957-35713958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200389837	chr5:35713959-35713960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367783448	chr5:35713962-35713963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111917405	chr5:35713963-35713964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370580309	chr5:35713969-35713970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371981105	chr5:35713975-35713976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201351753	chr5:35713997-35713998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368112770	chr5:35714001-35714002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371913941	chr5:35714002-35714003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370372931	chr5:35714008-35714009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375253546	chr5:35714014-35714015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189476742	chr5:35714023-35714024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556976568	chr5:35714028-35714029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368484177	chr5:35714036-35714037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576911289	chr5:35714041-35714042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370862856	chr5:35714047-35714048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372367511	chr5:35714053-35714054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142273091	chr5:35714075-35714076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375758973	chr5:35714079-35714080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368954567	chr5:35714080-35714081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368131413	chr5:35714083-35714084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373153580	chr5:35714092-35714093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186623345	chr5:35714104-35714105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12519450	chr5:35714106-35714107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376836618	chr5:35714114-35714115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369348542	chr5:35714118-35714119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373999675	chr5:35714119-35714120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376053149	chr5:35714125-35714126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111326693	chr5:35714130-35714131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377652181	chr5:35714131-35714132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181634222	chr5:35714143-35714144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185859332	chr5:35714145-35714146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79358042	chr5:35714154-35714155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77721370	chr5:35714156-35714157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199545847	chr5:35714158-35714159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74784694	chr5:35714163-35714164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370908938	chr5:35714166-35714167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544214296	chr5:35714167-35714168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75372630	chr5:35714171-35714172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79176451	chr5:35714172-35714173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76455675	chr5:35714179-35714180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371426668	chr5:35714180-35714181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76163707	chr5:35714181-35714182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79882990	chr5:35714191-35714192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368752016	chr5:35714193-35714194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Medulloblastoma	21979893	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
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35693800-35714000	Weak transcription	Brain Anterior Caudate	brain
2	chr5:35697000-35717000	Weak transcription	Left Ventricle	heart
3	chr5:35699400-35720600	Weak transcription	Monocytes-CD14+_RO01746	blood

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