Variant report
| Variant | esv3421820 |
|---|---|
| Chromosome Location | chr2:63488513-63488840 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:63487527..63489612-chr2:63491905..63493457,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs368848921 | chr2:63488522-63488523 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs575784980 | chr2:63488556-63488557 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs542876105 | chr2:63488597-63488598 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs554738643 | chr2:63488626-63488627 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs573100469 | chr2:63488629-63488630 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs191125935 | chr2:63488633-63488634 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs564737597 | chr2:63488712-63488713 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs548722154 | chr2:63488738-63488739 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs73934640 | chr2:63488750-63488751 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs183222480 | chr2:63488761-63488762 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs371231498 | chr2:63488762-63488763 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs2699396 | chr2:63488790-63488791 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:63)
| 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 |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:63476600-63496000 | Weak transcription | Primary B cells from cord blood | blood |
| 2 | chr2:63488000-63488800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 3 | chr2:63488000-63488800 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 4 | chr2:63488400-63488800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
