Variant report
| Variant | esv2269665 |
|---|---|
| Chromosome Location | chr3:22911497-22911924 |
| 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:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs33103 | chr3:22911525-22911526 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs115455129 | chr3:22911575-22911576 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs549815275 | chr3:22911584-22911585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs77773690 | chr3:22911589-22911590 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs538505670 | chr3:22911590-22911591 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs558212907 | chr3:22911609-22911610 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs549369121 | chr3:22911618-22911619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs147180780 | chr3:22911626-22911627 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs555771130 | chr3:22911664-22911665 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs113265251 | chr3:22911672-22911673 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs138939575 | chr3:22911688-22911689 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs544850249 | chr3:22911689-22911690 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs17012235 | chr3:22911707-22911708 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs578105986 | chr3:22911709-22911710 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs33104 | chr3:22911727-22911728 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs560326430 | chr3:22911837-22911838 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs527355322 | chr3:22911877-22911878 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs112831146 | chr3:22911883-22911884 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs35886219 | chr3:22911904-22911905 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:71)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Neuroblastoma | 17327916 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Hirschsprung''s Disease | 21712996 | 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 |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Esophageal squamous carcinoma | 17470683 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 20688739 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:22901800-22911600 | Weak transcription | Fetal Lung | lung |
| 2 | chr3:22911600-22912000 | Enhancers | Fetal Lung | lung |
| 3 | chr3:22911600-22912200 | Enhancers | Fetal Heart | heart |
