Variant report
| Variant | esv2218769 |
|---|---|
| Chromosome Location | chr2:63913798-63914259 |
| 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 | rs574950707 | chr2:63913837-63913838 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs13417333 | chr2:63913840-63913841 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs374278849 | chr2:63913842-63913843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs528098269 | chr2:63913843-63913844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs543378219 | chr2:63913928-63913929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs546604345 | chr2:63913942-63913943 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs559780267 | chr2:63913964-63913965 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs13431016 | chr2:63913971-63913972 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs143422106 | chr2:63913982-63913983 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs13431039 | chr2:63914046-63914047 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs551678778 | chr2:63914108-63914109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs570266157 | chr2:63914149-63914150 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs142263941 | chr2:63914170-63914171 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs549513062 | chr2:63914172-63914173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs567634951 | chr2:63914186-63914187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs186929350 | chr2:63914189-63914190 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs71393324 | chr2:63914210-63914211 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs35376272 | chr2:63914218-63914219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs553363850 | chr2:63914230-63914231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| 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 |
| lymphocytic leukemia | 21291569 | 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 |
| Acute lymphoblastic leukemia | 20435627 | 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 |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| abnormal development | 18461090 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Autism | 22579565 | CNVD |
| Autism | 16963482 | CNVD |
| Autism | 21750575 | CNVD |
| idiopathic intellectual disability | 16963482 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Follicular lymphoma | 17699855 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:63908800-63923400 | Weak transcription | Adipose Nuclei | Adipose |
| 2 | chr2:63909200-63925600 | Weak transcription | Psoas Muscle | Psoas |
