Variant report
| Variant | esv3451694 |
|---|---|
| Chromosome Location | chr11:4444412-4444632 |
| 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:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs551331269 | chr11:4444412-4444413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs563321017 | chr11:4444444-4444445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs149666320 | chr11:4444468-4444469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs545778898 | chr11:4444506-4444507 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs115977451 | chr11:4444522-4444523 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs528162618 | chr11:4444524-4444525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs568028918 | chr11:4444552-4444553 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs184739625 | chr11:4444555-4444556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs137901384 | chr11:4444556-4444557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs571156028 | chr11:4444562-4444563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs34166141 | chr11:4444563-4444564 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs568234164 | chr11:4444582-4444583 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs529217291 | chr11:4444591-4444592 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs189555997 | chr11:4444611-4444612 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs74965879 | chr11:4444617-4444618 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| Disease | PMID | Source |
|---|---|---|
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 19432969 | CNVD |
| Alzheimer''s disease | 17576883 | CNVD |
| Long-qt syndrome | 17576883 | CNVD |
| Emphysema | 19352772 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Chordoma | 18071362 | CNVD |
| Breast cancer | 16608533 | CNVD |
| 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 |
| Barrett''s syndrome | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioma | 17123091 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Neuroblastoma | 21124317 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Cancer | 17160897 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:4441600-4444600 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
| 2 | chr11:4443200-4444800 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 3 | chr11:4444600-4444800 | Enhancers | Monocytes-CD14+_RO01746 | blood |
