Variant report
| Variant | nsv823045 |
|---|---|
| Chromosome Location | chr5:29258285-29258840 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
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 | rs74828674 | chr5:29258304-29258305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs113047716 | chr5:29258306-29258307 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs370467144 | chr5:29258328-29258329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs78026634 | chr5:29258352-29258353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs4370285 | chr5:29258366-29258367 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs551672275 | chr5:29258378-29258379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs182315174 | chr5:29258409-29258410 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs549766007 | chr5:29258413-29258414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs186878503 | chr5:29258445-29258446 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs4370286 | chr5:29258458-29258459 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs73750032 | chr5:29258475-29258476 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs552862676 | chr5:29258489-29258490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs190384210 | chr5:29258506-29258507 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs557208936 | chr5:29258530-29258531 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs4370287 | chr5:29258531-29258532 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs112016146 | chr5:29258547-29258548 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs578138420 | chr5:29258556-29258557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs535225696 | chr5:29258626-29258627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs4467718 | chr5:29258627-29258628 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs6148964 | chr5:29258668-29258669 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs374890805 | chr5:29258715-29258716 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs5023619 | chr5:29258741-29258742 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs147004343 | chr5:29258749-29258750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs182578615 | chr5:29258775-29258776 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs12519344 | chr5:29258789-29258790 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs5866922 | chr5:29258790-29258791 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs11279371 | chr5:29258806-29258807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs567479440 | chr5:29258834-29258835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:95)
| Disease | PMID | Source |
|---|---|---|
| Kartagener syndrome | 16639409 | CNVD |
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:29255000-29258600 | Weak transcription | Hela-S3 | cervix |
| 2 | chr5:29258600-29258800 | Enhancers | Hela-S3 | cervix |
| 3 | chr5:29258800-29259600 | Weak transcription | Hela-S3 | cervix |
