Variant report
| Variant | esv3499172 |
|---|---|
| Chromosome Location | chr2:142350949-142351369 |
| 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:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs12992917 | chr2:142351001-142351002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs199820669 | chr2:142351004-142351005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs181813996 | chr2:142351005-142351006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs529101157 | chr2:142351006-142351007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs186441285 | chr2:142351007-142351008 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs568845176 | chr2:142351008-142351009 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs12992395 | chr2:142351087-142351088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs12992784 | chr2:142351119-142351120 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs12993187 | chr2:142351141-142351142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs11895625 | chr2:142351150-142351151 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs12992828 | chr2:142351174-142351175 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs112195718 | chr2:142351321-142351322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:62)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Mowat-Wilson syndrome | 21572526 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| epilepsy | 18472482 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| myoclonus epilepsy | 18472482 | CNVD |
| Benign familial neonatal-infantile seizures | 18472482 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Mental retardation | 22214275 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Glioblastoma multiforme | 19435819 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 22183965 | CNVD |
| Autism | 22543975 | CNVD |
| Cancer | 20164920 | CNVD |
| Hypertension | 22686481 | CNVD |
| Hypospadia | 22686481 | CNVD |
| Intellectual disability | 22686481 | CNVD |
| Omphalocele | 22686481 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Prostate cancer | 22341455 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:142351000-142351400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
