Variant report
| Variant | esv3431872 |
|---|---|
| Chromosome Location | chr20:15267109-15267182 |
| 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:11 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs57632527 | chr20:15267112-15267113 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs571164877 | chr20:15267129-15267130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs386812754 | chr20:15267144-15267145 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs538158800 | chr20:15267146-15267147 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs532411847 | chr20:15267147-15267148 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs368419579 | chr20:15267148-15267149 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs371282997 | chr20:15267153-15267154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs374788557 | chr20:15267159-15267160 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs369158838 | chr20:15267164-15267165 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs556394108 | chr20:15267168-15267169 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs373342248 | chr20:15267173-15267174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 16397240 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 19627613 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 16751803 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | CNVD |
| Glaucoma | 21310917 | CNVD |
| Alagille syndrome | 22470819 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Alagille syndrome | 17576883 | CNVD |
| Anaplastic large cell lymphoma | 18179710 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ewing''s sarcoma | 18628472 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Leukemia | 18628472 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Kabuki syndrome | 21720541 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Glioblastoma multiforme | 21138945 | CNVD |
| Cancer | 20164919 | CNVD |
| Multiple sclerosis | 20663923 | CNVD |
| Schizophrenia | 20663923 | CNVD |
| brain infarct | 20663923 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Cancer | 20164920 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Breast cancer | 21364760 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:15259400-15277600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
