Variant report

Variant	esv2001300
Chromosome Location	chr5:35672183-35672597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530446372	chr5:35672194-35672195	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544160948	chr5:35672205-35672206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529188281	chr5:35672213-35672214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62351872	chr5:35672247-35672248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569071950	chr5:35672253-35672254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566266773	chr5:35672256-35672257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191297923	chr5:35672267-35672268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10472979	chr5:35672297-35672298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183491027	chr5:35672299-35672300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73080280	chr5:35672315-35672316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537064422	chr5:35672359-35672360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557306638	chr5:35672363-35672364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570905071	chr5:35672364-35672365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201563506	chr5:35672392-35672393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199536541	chr5:35672393-35672394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200602284	chr5:35672394-35672395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201367209	chr5:35672395-35672396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373501024	chr5:35672396-35672397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375617183	chr5:35672403-35672404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539914553	chr5:35672437-35672438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553011014	chr5:35672452-35672453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572707228	chr5:35672453-35672454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535243556	chr5:35672467-35672468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551065019	chr5:35672491-35672492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570825355	chr5:35672540-35672541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10036432	chr5:35672574-35672575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs114761906	chr5:35672584-35672585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188146572	chr5:35672591-35672592	Weak transcription Enhancers	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35618600-35678000	Weak transcription	Left Ventricle	heart
2	chr5:35630600-35707600	Weak transcription	Pancreas	Pancrea
3	chr5:35634800-35673200	Weak transcription	Brain Anterior Caudate	brain
4	chr5:35642600-35673000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:35645200-35673600	Weak transcription	Fetal Kidney	kidney
6	chr5:35651200-35673000	Weak transcription	Ovary	ovary
7	chr5:35657400-35673000	Weak transcription	Fetal Heart	heart
8	chr5:35665600-35677800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:35667800-35672400	Weak transcription	Fetal Lung	lung
10	chr5:35668600-35675000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:35668600-35675800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:35669000-35675000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr5:35669200-35674800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:35669200-35675000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr5:35670000-35673200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:35670000-35673200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:35670200-35674400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:35670200-35675000	Enhancers	Dnd41	blood
19	chr5:35670400-35678800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:35670800-35672200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr5:35671000-35674600	Enhancers	Primary hematopoietic stem cells	blood
22	chr5:35671400-35673200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:35671600-35672200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:35671600-35673800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:35671800-35672200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr5:35671800-35673000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:35672000-35673000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:35672000-35673200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr5:35672000-35675000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr5:35672000-35708600	Weak transcription	Gastric	stomach
31	chr5:35672200-35673000	Enhancers	Primary T cells from cord blood	blood
32	chr5:35672200-35673200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr5:35672200-35674800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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