Variant report
| Variant | nsv522184 |
|---|---|
| Chromosome Location | chr14:40639294-40640214 |
| 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 | rs1955533 | chr14:40639294-40639295 | Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs149699519 | chr14:40639304-40639305 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs555208313 | chr14:40639363-40639364 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs531983831 | chr14:40639378-40639379 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs181505802 | chr14:40639394-40639395 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs543915624 | chr14:40639411-40639412 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs1955532 | chr14:40639418-40639419 | Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs532572063 | chr14:40639422-40639423 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs116661203 | chr14:40639503-40639504 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs559267724 | chr14:40639584-40639585 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs147160412 | chr14:40639591-40639592 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs547942658 | chr14:40639599-40639600 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs5008594 | chr14:40639644-40639645 | Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs186476950 | chr14:40639665-40639666 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs138759454 | chr14:40639680-40639681 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs570338844 | chr14:40639701-40639702 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs142760144 | chr14:40639733-40639734 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs559282320 | chr14:40639744-40639745 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs375264123 | chr14:40639767-40639768 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs566334228 | chr14:40639782-40639783 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs535335844 | chr14:40639783-40639784 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs72685067 | chr14:40639859-40639860 | Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs189588709 | chr14:40639877-40639878 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:60)
| 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 |
| Prostate cancer | 21298110 | CNVD |
| Metanephric adenoma | 20802469 | 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 |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:40639200-40639400 | Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr14:40639400-40640000 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
