Variant report

Variant	esv3419564
Chromosome Location	chr5:29455345-29458143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11285473	chr5:29456820-29456821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11383341	chr5:29456833-29456834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397997202	chr5:29456835-29456836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560270506	chr5:29456912-29456913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143235701	chr5:29456920-29456921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115419384	chr5:29456921-29456922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139391187	chr5:29456934-29456935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184347389	chr5:29456940-29456941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143324970	chr5:29456995-29456996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147523622	chr5:29456996-29456997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564285798	chr5:29457017-29457018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567090031	chr5:29457029-29457030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540120679	chr5:29457107-29457108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13158967	chr5:29457114-29457115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570100358	chr5:29457172-29457173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140104075	chr5:29457302-29457303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556047069	chr5:29457336-29457337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529229456	chr5:29457359-29457360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71608763	chr5:29457413-29457414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376698522	chr5:29457414-29457415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111845428	chr5:29457443-29457444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148572109	chr5:29457444-29457445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75629573	chr5:29457445-29457446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369452224	chr5:29457446-29457447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80272001	chr5:29457447-29457448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55688567	chr5:29457449-29457450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs70948545	chr5:29457451-29457452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141984040	chr5:29457467-29457468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1665489	chr5:29457471-29457472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569112948	chr5:29457483-29457484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533016971	chr5:29457509-29457510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551458316	chr5:29457516-29457517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566316977	chr5:29457568-29457569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569494304	chr5:29457596-29457597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187241706	chr5:29457601-29457602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555104666	chr5:29457606-29457607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35806455	chr5:29457658-29457659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80195083	chr5:29457702-29457703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112877897	chr5:29457719-29457720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578047681	chr5:29457761-29457762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115455335	chr5:29457768-29457769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575445106	chr5:29457782-29457783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192062491	chr5:29457808-29457809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373746165	chr5:29457836-29457837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558245649	chr5:29457855-29457856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573288430	chr5:29457900-29457901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117907408	chr5:29457908-29457909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540310883	chr5:29457934-29457935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562107838	chr5:29457999-29458000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs788534	chr5:29458042-29458043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
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
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
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29456800-29461400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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