Variant report
| Variant | esv3336716 |
|---|---|
| Chromosome Location | chr14:67187918-67188371 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-ATP6V1D-5 | chr14:67187470-67188083 | predAs_ge08_ARG2_2 |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs35737618 | chr14:67187965-67187966 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs568508452 | chr14:67187983-67187984 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs550674398 | chr14:67188010-67188011 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs200337066 | chr14:67188020-67188021 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs566218449 | chr14:67188146-67188147 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs114378778 | chr14:67188204-67188205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs12100903 | chr14:67188236-67188237 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 8 | rs572566407 | chr14:67188245-67188246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs575136394 | chr14:67188256-67188257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs563891293 | chr14:67188261-67188262 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs115949835 | chr14:67188300-67188301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs371093106 | chr14:67188311-67188312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs577549043 | chr14:67188314-67188315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs192433369 | chr14:67188320-67188321 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs145693452 | chr14:67188327-67188328 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs533079363 | chr14:67188348-67188349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs560886245 | chr14:67188363-67188364 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs542271560 | chr14:67188366-67188367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:63)
| 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 |
| 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 |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Chronic myeloid leukemia | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| cataract | 16735990 | CNVD |
| Neuroblastoma | 20406844 | CNVD |
| Autism | 22495309 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:67181800-67194600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 2 | chr14:67183400-67192600 | Weak transcription | Brain Hippocampus Middle | brain |
| 3 | chr14:67184800-67189400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 4 | chr14:67186400-67188400 | Weak transcription | Left Ventricle | heart |
