Variant report
| Variant | esv3433174 |
|---|---|
| Chromosome Location | chr16:76813851-76814261 |
| 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 | rs67923379 | chr16:76813855-76813856 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs117126177 | chr16:76813890-76813891 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs545631461 | chr16:76813926-76813927 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs556034202 | chr16:76813928-76813929 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs371313898 | chr16:76813974-76813975 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576850688 | chr16:76814046-76814047 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs186972582 | chr16:76814127-76814128 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs12599224 | chr16:76814147-76814148 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs112218244 | chr16:76814170-76814171 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540374588 | chr16:76814185-76814186 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs191801331 | chr16:76814196-76814197 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs532743706 | chr16:76814205-76814206 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:75)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16702952 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Cancer | 22429812 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Melanoma | 18172304 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 17245344 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Breast cancer | 21806811 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Melanoma | 22183965 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Poland''s syndrome | 22110015 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21183584 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 19156837 | CNVD |
| Acute myeloid leukemia | 17377590 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Lung cancer | 24585490 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Cancer | 20164920 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Cancer | 20581869 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:76812600-76818000 | Weak transcription | HMEC | breast |
| 2 | chr16:76813000-76818800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 3 | chr16:76813400-76816800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 4 | chr16:76813800-76814400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
