Variant report
| Variant | esv3490720 |
|---|---|
| Chromosome Location | chr16:80468496-80469053 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr16:80467020..80469434-chr16:80558552..80560756,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs555923397 | chr16:80468535-80468536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs375686904 | chr16:80468594-80468595 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs574076410 | chr16:80468631-80468632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs537932143 | chr16:80468634-80468635 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs369043928 | chr16:80468645-80468646 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs373169909 | chr16:80468646-80468647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs566701175 | chr16:80468738-80468739 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs370544693 | chr16:80468753-80468754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs113035873 | chr16:80468785-80468786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs556154238 | chr16:80468802-80468803 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs187966186 | chr16:80468896-80468897 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs545694900 | chr16:80468975-80468976 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs567644673 | chr16:80468977-80468978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs377046569 | chr16:80469014-80469015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs193138029 | chr16:80469032-80469033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs540083445 | chr16:80469035-80469036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| 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 |
| small cell lung cancer | 20016488 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21183584 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Adrenocortical carcinoma | 18281524 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Autism | 21865298 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr16:80468200-80471000 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
