Variant report

Variant	esv1843245
Chromosome Location	chr5:29432788-29460606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 97 )

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	rs77985751	chr5:29433007-29433008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547292560	chr5:29433008-29433009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76565476	chr5:29433009-29433010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150476962	chr5:29433011-29433012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73750346	chr5:29433030-29433031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72749334	chr5:29433068-29433069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113685849	chr5:29433069-29433070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72749336	chr5:29433070-29433071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67778175	chr5:29433102-29433103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565899605	chr5:29433108-29433109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72749339	chr5:29433121-29433122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73082686	chr5:29433132-29433133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547926213	chr5:29433176-29433177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540761585	chr5:29450411-29450412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1059074	chr5:29450429-29450430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10075121	chr5:29450467-29450468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529289532	chr5:29450472-29450473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544487348	chr5:29450486-29450487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562784782	chr5:29450530-29450531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1136464	chr5:29450543-29450544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62353253	chr5:29450550-29450551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10689919	chr5:29450602-29450603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376142110	chr5:29450603-29450604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10674362	chr5:29450605-29450606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202002154	chr5:29450614-29450615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1059073	chr5:29450617-29450618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1136461	chr5:29450634-29450635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10689920	chr5:29450670-29450671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386403406	chr5:29450671-29450672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386403407	chr5:29450673-29450674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10674363	chr5:29450674-29450675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62353254	chr5:29450698-29450699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533297538	chr5:29450724-29450725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551582889	chr5:29450740-29450741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111636928	chr5:29450742-29450743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192073024	chr5:29450760-29450761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199540538	chr5:29450773-29450774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370583428	chr5:29450784-29450785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527388459	chr5:29450792-29450793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375311577	chr5:29450799-29450800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11285473	chr5:29456820-29456821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11383341	chr5:29456833-29456834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397997202	chr5:29456835-29456836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560270506	chr5:29456912-29456913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143235701	chr5:29456920-29456921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115419384	chr5:29456921-29456922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139391187	chr5:29456934-29456935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184347389	chr5:29456940-29456941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143324970	chr5:29456995-29456996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147523622	chr5:29456996-29456997	Weak transcription	n/a	n/a	Overlapped CNVs	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29433000-29433200	Enhancers	Aorta	Aorta
2	chr5:29450400-29450800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:29456800-29461400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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