Variant report
| Variant | esv3426247 |
|---|---|
| Chromosome Location | chr18:28874852-28875179 |
| 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:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs560870369 | chr18:28874861-28874862 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs574123216 | chr18:28874878-28874879 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs75072632 | chr18:28874915-28874916 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs62088676 | chr18:28875020-28875021 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs147737487 | chr18:28875032-28875033 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs551333955 | chr18:28875033-28875034 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs73413256 | chr18:28875112-28875113 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs531071414 | chr18:28875136-28875137 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs185236534 | chr18:28875137-28875138 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs367662897 | chr18:28875149-28875150 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:70)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Trisomy 18 syndrome | 17576883 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| 18q deletion syndrome | 19533772 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Colorectal cancer | 21102417 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Pancreatic cancer | 21811562 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Mucosa-associated lymphoid tissue lymphomas | 21459788 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Autism | 16446308 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Cancer | 16751803 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Colorectal cancer | 21297112 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Cancer | 21183584 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Renal cell carcinoma | 19150565 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Colorectal cancer | 19150955 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:28873600-28875200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr18:28874000-28875200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 3 | chr18:28874600-28876800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 4 | chr18:28874600-28877200 | Weak transcription | HMEC | breast |
| 5 | chr18:28874600-28880400 | Weak transcription | Stomach Mucosa | stomach |
| 6 | chr18:28874800-28876800 | Weak transcription | NHEK | skin |
