Variant report

Variant	esv1808912
Chromosome Location	chr5:45366788-45378207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368065242	chr5:45376424-45376425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370745942	chr5:45376425-45376426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375604671	chr5:45376431-45376432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368385124	chr5:45376434-45376435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182270536	chr5:45376436-45376437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201682954	chr5:45376440-45376441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372754621	chr5:45376441-45376442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550138135	chr5:45376449-45376450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187341389	chr5:45376451-45376452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374514550	chr5:45376452-45376453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13188682	chr5:45376453-45376454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144163740	chr5:45376455-45376456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200787164	chr5:45376457-45376458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574587436	chr5:45376468-45376469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76739492	chr5:45376489-45376490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190026618	chr5:45376518-45376519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35485064	chr5:45376552-45376553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577169947	chr5:45376558-45376559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182298172	chr5:45376575-45376576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114866075	chr5:45376592-45376593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115551716	chr5:45376603-45376604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541894268	chr5:45376655-45376656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185141492	chr5:45376690-45376691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190304605	chr5:45376692-45376693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372484551	chr5:45376706-45376707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547059783	chr5:45376717-45376718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565719630	chr5:45376766-45376767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564479336	chr5:45376774-45376775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116071311	chr5:45376779-45376780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549934266	chr5:45376780-45376781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139577013	chr5:45376782-45376783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529234573	chr5:45376811-45376812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576852363	chr5:45376840-45376841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549474903	chr5:45376848-45376849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149786527	chr5:45376872-45376873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566130150	chr5:45376880-45376881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145760897	chr5:45376888-45376889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534837161	chr5:45376900-45376901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200083807	chr5:45376906-45376907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554001641	chr5:45376917-45376918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557641115	chr5:45376939-45376940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570808530	chr5:45377013-45377014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10066509	chr5:45377015-45377016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555920895	chr5:45377049-45377050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148966386	chr5:45377092-45377093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541434152	chr5:45377132-45377133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555444794	chr5:45377139-45377140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571796926	chr5:45377185-45377186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536869305	chr5:45377196-45377197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115638168	chr5:45377200-45377201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45376400-45377200	Enhancers	HUVEC	blood vessel
2	chr5:45376400-45380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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