Variant report
| Variant | esv3393033 |
|---|---|
| Chromosome Location | chr2:52054225-52054391 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs576216593 | chr2:52054227-52054228 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs563496648 | chr2:52054230-52054231 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs543547176 | chr2:52054245-52054246 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs532970998 | chr2:52054248-52054249 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs546805823 | chr2:52054252-52054253 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs554232238 | chr2:52054280-52054281 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs2354984 | chr2:52054284-52054285 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs529407434 | chr2:52054293-52054294 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs532162823 | chr2:52054298-52054299 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs187760644 | chr2:52054310-52054311 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs549073427 | chr2:52054313-52054314 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs560430914 | chr2:52054318-52054319 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs192765918 | chr2:52054335-52054336 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs11563017 | chr2:52054378-52054379 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| 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 |
| 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 |
| Leukemia | 18628472 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21508638 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Lung cancer | 17297452 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| abnormal development | 18461090 | CNVD |
| Schizophrenia | 20433910 | CNVD |
| Autism | 21701786 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Austim spectrum disorder | 21302340 | CNVD |
| Schizophrenia | 20587603 | CNVD |
| Schizophrenia | 20553308 | CNVD |
| Autism | 22241247 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute lymphoblastic leukemia | 18768390 | CNVD |
| Mental retardation | 19521722 | CNVD |
| Schizophrenia | 18990708 | CNVD |
| Schizophrenia | 18940311 | CNVD |
| Schizophrenia | 19348701 | CNVD |
| Schizophrenia | 18945720 | CNVD |
| Schizophrenia | 19571808 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Schizophrenia | 19443537 | CNVD |
| Schizophrenia | 19546859 | CNVD |
| Autism | 17322880 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Chronic lymphocytic leukemia | 17053054 | CNVD |
| Hereditary non-polyposis colorectal cancer | 19566914 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:52054200-52055000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr2:52054200-52068600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
