Variant report

Variant	esv3421923
Chromosome Location	chr5:17051452-17052750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550685225	chr5:17051460-17051461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112238225	chr5:17051461-17051462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191676982	chr5:17051476-17051477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7727307	chr5:17051489-17051490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181617664	chr5:17051498-17051499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534955561	chr5:17051580-17051581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553162210	chr5:17051607-17051608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561419966	chr5:17051641-17051642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369453725	chr5:17051643-17051644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4373280	chr5:17051663-17051664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557407445	chr5:17051664-17051665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575584345	chr5:17051705-17051706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543612843	chr5:17051711-17051712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61399915	chr5:17051757-17051758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367554053	chr5:17051773-17051774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371791822	chr5:17051775-17051776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139082439	chr5:17051779-17051780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543024397	chr5:17051781-17051782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554638775	chr5:17051783-17051784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375053341	chr5:17051819-17051820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369387554	chr5:17051821-17051822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372901022	chr5:17051823-17051824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573177666	chr5:17051844-17051845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201777247	chr5:17051847-17051848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375090095	chr5:17051849-17051850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376711539	chr5:17051852-17051853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369554699	chr5:17051870-17051871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199875294	chr5:17051884-17051885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs70943849	chr5:17051892-17051893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373279504	chr5:17051896-17051897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377491017	chr5:17051906-17051907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371209049	chr5:17051907-17051908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373033465	chr5:17051908-17051909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28796129	chr5:17051916-17051917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376271732	chr5:17051918-17051919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370558474	chr5:17051931-17051932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187217910	chr5:17051932-17051933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375268652	chr5:17051933-17051934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375319428	chr5:17051943-17051944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371701689	chr5:17051945-17051946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28823288	chr5:17051953-17051954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369129811	chr5:17051954-17051955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28820651	chr5:17051955-17051956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377615174	chr5:17051956-17051957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370982729	chr5:17051958-17051959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs70943850	chr5:17051965-17051966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28786746	chr5:17051967-17051968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565115586	chr5:17051974-17051975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28816547	chr5:17051985-17051986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28832888	chr5:17051988-17051989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
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
Multiple myeloma	17550852	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
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17050800-17057400	Weak transcription	HUVEC	blood vessel
2	chr5:17052400-17053800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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