Variant report
| Variant | esv3401378 |
|---|---|
| Chromosome Location | chr11:24276347-24276804 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs78548971 | chr11:24276357-24276358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs565028901 | chr11:24276359-24276360 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs371632716 | chr11:24276384-24276385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs191718879 | chr11:24276392-24276393 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs531775335 | chr11:24276444-24276445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs11027793 | chr11:24276447-24276448 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs561996353 | chr11:24276449-24276450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs538919164 | chr11:24276461-24276462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs527986279 | chr11:24276524-24276525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs114742593 | chr11:24276572-24276573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs544437714 | chr11:24276585-24276586 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs533443817 | chr11:24276589-24276590 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs562426465 | chr11:24276611-24276612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs150770131 | chr11:24276652-24276653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs570151550 | chr11:24276677-24276678 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs535247846 | chr11:24276696-24276697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs529823030 | chr11:24276712-24276713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs139438844 | chr11:24276717-24276718 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs7110982 | chr11:24276734-24276735 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs199694039 | chr11:24276771-24276772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs75522633 | chr11:24276778-24276779 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21785460 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Congenital diaphragmatic hernia | 21525063 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Potocki-Shaffer syndrome | 19222835 | CNVD |
| WAGR syndrome | 19222835 | CNVD |
| Chordoma | 18071362 | CNVD |
| Autism | 22102821 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:24275400-24288000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
