Variant report
| Variant | esv3337269 |
|---|---|
| Chromosome Location | chr2:67886628-67887092 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs574263770 | chr2:67886636-67886637 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs542983736 | chr2:67886639-67886640 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs75322624 | chr2:67886646-67886647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs528094820 | chr2:67886704-67886705 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs189016338 | chr2:67886729-67886730 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs564649846 | chr2:67886775-67886776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs530574465 | chr2:67886777-67886778 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs76905308 | chr2:67886780-67886781 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs111225962 | chr2:67886786-67886787 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs529986451 | chr2:67886847-67886848 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs376877717 | chr2:67886862-67886863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs546607855 | chr2:67886887-67886888 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs72621582 | chr2:67886913-67886914 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs368747677 | chr2:67886914-67886915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs181725395 | chr2:67886921-67886922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs72621583 | chr2:67886940-67886941 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs571765657 | chr2:67887014-67887015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs184900204 | chr2:67887019-67887020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs190197496 | chr2:67887033-67887034 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs376582181 | chr2:67887043-67887044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs564043832 | chr2:67887048-67887049 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs553404180 | chr2:67887060-67887061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs572466791 | chr2:67887061-67887062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:55)
| Disease | PMID | Source |
|---|---|---|
| Lynch syndrome | 18415027 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Adrenal tumor | 17535989 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Medulloblastoma | 17522785 | CNVD |
| Cancer | 23418310 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Autism | 17483303 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Medulloblastoma | 20607354 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Cancer | 21183584 | CNVD |
| Leukoplakia | 24403051 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:67884600-67887600 | Weak transcription | Aorta | Aorta |
| 2 | chr2:67884800-67888000 | Weak transcription | Muscle Satellite Cultured Cells | -- |
