Variant report
| Variant | esv3500304 |
|---|---|
| Chromosome Location | chr11:4574500-4574821 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs529712590 | chr11:4574500-4574501 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs549853110 | chr11:4574532-4574533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs74052420 | chr11:4574554-4574555 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs574210978 | chr11:4574567-4574568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs148534682 | chr11:4574579-4574580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs563042341 | chr11:4574592-4574593 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs533543003 | chr11:4574604-4574605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs183164033 | chr11:4574606-4574607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs559980702 | chr11:4574630-4574631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs527425134 | chr11:4574637-4574638 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs117070635 | chr11:4574638-4574639 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs532283651 | chr11:4574646-4574647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs567266135 | chr11:4574662-4574663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs75878594 | chr11:4574680-4574681 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs554248473 | chr11:4574687-4574688 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs187911345 | chr11:4574693-4574694 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs191533509 | chr11:4574719-4574720 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs60359183 | chr11:4574720-4574721 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs111388863 | chr11:4574725-4574726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs553591451 | chr11:4574749-4574750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs548486853 | chr11:4574754-4574755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs146498027 | chr11:4574785-4574786 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs374812316 | chr11:4574795-4574796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:58)
| 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 |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:4568600-4580600 | Weak transcription | Gastric | stomach |
