Variant report
| Variant | esv3520281 |
|---|---|
| Chromosome Location | chr11:18165145-18165340 |
| 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 | rs192645957 | chr11:18165184-18165185 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs184679677 | chr11:18165201-18165202 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs534731386 | chr11:18165223-18165224 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs554362975 | chr11:18165224-18165225 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs572612650 | chr11:18165225-18165226 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs546171061 | chr11:18165247-18165248 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs543859078 | chr11:18165252-18165253 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs376542489 | chr11:18165285-18165286 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs564846498 | chr11:18165288-18165289 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs559448825 | chr11:18165339-18165340 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs386751138 | chr11:18165340-18165341 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:51)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 21183584 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| 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 |
| small cell lung cancer | 20016488 | 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 | 21858162 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Uterine serous papillary cancer | 19536090 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:18157200-18165600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr11:18164000-18166000 | Enhancers | HMEC | breast |
| 3 | chr11:18164800-18166600 | Enhancers | NHEK | skin |
