Variant report
| Variant | esv3516402 |
|---|---|
| Chromosome Location | chr14:39004432-39005062 |
| 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 | rs540658761 | chr14:39004460-39004461 | Enhancers ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs368338034 | chr14:39004517-39004518 | Enhancers ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs560824120 | chr14:39004531-39004532 | Enhancers ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs529713473 | chr14:39004570-39004571 | Enhancers ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs543709960 | chr14:39004594-39004595 | Enhancers ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs556659683 | chr14:39004620-39004621 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs563611967 | chr14:39004631-39004632 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs574859956 | chr14:39004732-39004733 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs532327333 | chr14:39004789-39004790 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs552397493 | chr14:39004890-39004891 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs571642055 | chr14:39004931-39004932 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs527745877 | chr14:39004943-39004944 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs547578926 | chr14:39005021-39005022 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs199852925 | chr14:39005027-39005028 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs115932082 | chr14:39005040-39005041 | Enhancers Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| Disease | PMID | Source |
|---|---|---|
| Esophageal cancer | 21851588 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Melanoma | 18172304 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| abnormal development | 18461090 | CNVD |
| Prostate cancer | 21298110 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Thyroid cancer | 19470727 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Cancer | 20164919 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:39002800-39005600 | Weak transcription | Fetal Brain Male | brain |
| 2 | chr14:39004200-39004600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr14:39004400-39006000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr14:39004600-39004800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr14:39004800-39005000 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 6 | chr14:39005000-39006800 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 7 | chr14:39005000-39009000 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
