Variant report
| Variant | esv3382256 |
|---|---|
| Chromosome Location | chr15:55404950-55405295 |
| 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:16 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs185172651 | chr15:55404975-55404976 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs548195251 | chr15:55405030-55405031 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs533424184 | chr15:55405031-55405032 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs62018201 | chr15:55405074-55405075 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs149480762 | chr15:55405075-55405076 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs191854995 | chr15:55405100-55405101 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs570915099 | chr15:55405128-55405129 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs11637571 | chr15:55405133-55405134 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs548733 | chr15:55405141-55405142 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs535581612 | chr15:55405151-55405152 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs376716127 | chr15:55405214-55405215 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs575252388 | chr15:55405230-55405231 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs543271279 | chr15:55405233-55405234 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs11071167 | chr15:55405253-55405254 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 15 | rs577106713 | chr15:55405273-55405274 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs545967105 | chr15:55405280-55405281 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:57)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| cataract | 16735990 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
| Schizophrenia | 21324950 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Disease | 21824424 | CNVD |
| Melanoma | 18172304 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Cancer | 21129771 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Abnormal phenotypes | 18644119 | CNVD |
| Cancer | 16751803 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:55401000-55406200 | Weak transcription | Fetal Muscle Leg | muscle |
| 2 | chr15:55404800-55405200 | Enhancers | Fetal Lung | lung |
| 3 | chr15:55405000-55405800 | Enhancers | Fetal Muscle Trunk | muscle |
| 4 | chr15:55405200-55416800 | Weak transcription | Fetal Lung | lung |
