Variant report
| Variant | esv1942655 |
|---|---|
| Chromosome Location | chr12:33266125-33266536 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs75501017 | chr12:33266181-33266182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs189558945 | chr12:33266185-33266186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs532150368 | chr12:33266198-33266199 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs545631231 | chr12:33266208-33266209 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs11052456 | chr12:33266222-33266223 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs77083661 | chr12:33266229-33266230 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs182220762 | chr12:33266255-33266256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs188063854 | chr12:33266273-33266274 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs148804876 | chr12:33266310-33266311 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs61273100 | chr12:33266313-33266314 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs568009594 | chr12:33266348-33266349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs138784044 | chr12:33266372-33266373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs369304982 | chr12:33266381-33266382 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs117390919 | chr12:33266412-33266413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs545052364 | chr12:33266415-33266416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs540028513 | chr12:33266435-33266436 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs191152365 | chr12:33266436-33266437 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs553496204 | chr12:33266525-33266526 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Seminomas | 18059402 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Cancer | 20164919 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Cancer | 21129771 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Breast cancer | 17133270 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Chordoma | 18071362 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 21272361 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Alcoholism | 21790672 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:33261600-33269200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 2 | chr12:33265600-33268200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 3 | chr12:33265600-33268400 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 4 | chr12:33265600-33268600 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
| 5 | chr12:33265600-33268800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 6 | chr12:33265600-33269000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 7 | chr12:33265600-33269000 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
| 8 | chr12:33265600-33269000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 9 | chr12:33265800-33268600 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
