Variant report
| Variant | esv2149596 |
|---|---|
| Chromosome Location | chr3:59492886-59493347 |
| 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:26 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs533350006 | chr3:59492906-59492907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs566008292 | chr3:59492941-59492942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs56188040 | chr3:59492960-59492961 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs374419720 | chr3:59493034-59493035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs76180947 | chr3:59493038-59493039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs6765554 | chr3:59493049-59493050 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 7 | rs537549198 | chr3:59493061-59493062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs376228110 | chr3:59493062-59493063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs369584675 | chr3:59493071-59493072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs181100404 | chr3:59493074-59493075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs554280707 | chr3:59493084-59493085 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs56227728 | chr3:59493117-59493118 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs542006754 | chr3:59493131-59493132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs17060841 | chr3:59493146-59493147 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs186593579 | chr3:59493168-59493169 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs371434760 | chr3:59493178-59493179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs146390021 | chr3:59493180-59493181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs367693299 | chr3:59493181-59493182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs546086521 | chr3:59493204-59493205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs56218373 | chr3:59493215-59493216 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs6805613 | chr3:59493220-59493221 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs547121438 | chr3:59493228-59493229 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs562206882 | chr3:59493229-59493230 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs554562292 | chr3:59493286-59493287 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs6805642 | chr3:59493297-59493298 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs115050467 | chr3:59493300-59493301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:87)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 19490591 | CNVD |
| Autism | 18414403 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Metastatic melanoma | 17975146 | CNVD |
| Cancer | 18162546 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Squamous cell cancer | 19047905 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Cancer | 20164920 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:59492400-59501000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 2 | chr3:59492600-59496400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
