Variant report

Variant	esv2310076
Chromosome Location	chr5:35785831-35785832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:35784897..35787598-chr5:35787752..35790021,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 100 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573772920	chr5:35785831-35785832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10077553	chr5:35785832-35785833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Prostate cancer	21147910	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35778000-35787800	Enhancers	Dnd41	blood
2	chr5:35781800-35788000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:35782000-35787800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:35782200-35789000	Weak transcription	NHDF-Ad	bronchial
5	chr5:35782400-35786000	Weak transcription	Thymus	Thymus
6	chr5:35782400-35786400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:35782400-35786600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:35782400-35786600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr5:35782400-35788000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:35782400-35788800	Weak transcription	NHLF	lung
11	chr5:35782600-35789800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:35782800-35787800	Enhancers	Primary T cells from cord blood	blood
13	chr5:35783400-35789600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:35784200-35787800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:35784200-35789800	Weak transcription	HSMM	muscle
16	chr5:35784400-35786800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr5:35784400-35787600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:35784600-35787600	Enhancers	Fetal Thymus	thymus
19	chr5:35784800-35786400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:35785000-35787800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:35785000-35789000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:35785000-35803200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:35785200-35786000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:35785400-35789600	Weak transcription	Osteobl	bone
25	chr5:35785800-35786000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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