Variant report
| Variant | esv3386442 |
|---|---|
| Chromosome Location | chr12:10401283-10401526 |
| 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 | rs113952956 | chr12:10401284-10401285 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs183332485 | chr12:10401307-10401308 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs187867966 | chr12:10401314-10401315 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs61919793 | chr12:10401331-10401332 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs545253263 | chr12:10401342-10401343 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs7304038 | chr12:10401347-10401348 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs554256616 | chr12:10401358-10401359 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs527599933 | chr12:10401360-10401361 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs192484593 | chr12:10401389-10401390 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs371943336 | chr12:10401395-10401396 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs184481216 | chr12:10401412-10401413 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs566191385 | chr12:10401418-10401419 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs529653636 | chr12:10401422-10401423 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs549504254 | chr12:10401458-10401459 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs7137689 | chr12:10401459-10401460 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs538337539 | chr12:10401470-10401471 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs557943759 | chr12:10401474-10401475 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs55855636 | chr12:10401476-10401477 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs534221045 | chr12:10401512-10401513 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:84)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Cancer | 21183584 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Emphysema | 19352772 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Malignant germ cell tumour | 17285132 | CNVD |
| Melanoma | 18172304 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Seminomas | 18059402 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Squamous cell cancer | 19607727 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute lymphoblastic leukemia | 19100363 | CNVD |
| Acute myeloid leukemia | 17268525 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:10377800-10404400 | Weak transcription | Left Ventricle | heart |
| 2 | chr12:10395800-10402400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 3 | chr12:10397200-10401800 | Weak transcription | Primary T helper naive cells from peripheral blood | blood |
| 4 | chr12:10397200-10402200 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 5 | chr12:10397200-10402400 | Weak transcription | Primary hematopoietic stem cells | blood |
| 6 | chr12:10397200-10402400 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
| 7 | chr12:10397200-10402400 | Weak transcription | Dnd41 | blood |
| 8 | chr12:10397200-10403000 | Weak transcription | Primary T cells fromperipheralblood | blood |
| 9 | chr12:10398800-10436200 | Weak transcription | Placenta | Placenta |
| 10 | chr12:10399400-10405200 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
| 11 | chr12:10400400-10402400 | Weak transcription | GM12878-XiMat | blood |
| 12 | chr12:10400600-10402000 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
| 13 | chr12:10400800-10401600 | Weak transcription | Primary T killer naive cells fromperipheralblood | blood |
