Variant report
| Variant | esv1989357 |
|---|---|
| Chromosome Location | chr3:21457306-21458016 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs563415236 | chr3:21457322-21457323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs530253789 | chr3:21457328-21457329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs4857997 | chr3:21457341-21457342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs189791509 | chr3:21457369-21457370 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529712695 | chr3:21457390-21457391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs548564949 | chr3:21457412-21457413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs201188363 | chr3:21457509-21457510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs370007644 | chr3:21457510-21457511 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs181848783 | chr3:21457511-21457512 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs62235508 | chr3:21457562-21457563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs186865520 | chr3:21457759-21457760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs373500230 | chr3:21457820-21457821 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs377201709 | chr3:21457903-21457904 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs138556882 | chr3:21457926-21457927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs1611929 | chr3:21457961-21457962 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 16 | rs570754643 | chr3:21457977-21457978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs367779365 | chr3:21457996-21457997 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:75)
| 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 |
| Developmental delay | 21147756 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Melanoma | 20688739 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:21452600-21462600 | Weak transcription | Aorta | Aorta |
| 2 | chr3:21453200-21475600 | Weak transcription | Fetal Muscle Leg | muscle |
| 3 | chr3:21455000-21469000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr3:21455400-21459400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
