Variant report
| Variant | esv3384899 |
|---|---|
| Chromosome Location | chr15:53402028-53402396 |
| 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:21 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs562748035 | chr15:53402030-53402031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs538908291 | chr15:53402045-53402046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs187805160 | chr15:53402049-53402050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs557910923 | chr15:53402050-53402051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs192367077 | chr15:53402054-53402055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs142271948 | chr15:53402108-53402109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs559546 | chr15:53402118-53402119 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs560672525 | chr15:53402212-53402213 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs572755637 | chr15:53402214-53402215 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs183703826 | chr15:53402226-53402227 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs371492534 | chr15:53402237-53402238 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs73403632 | chr15:53402270-53402271 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs530597441 | chr15:53402289-53402290 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs369764517 | chr15:53402320-53402321 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs368539714 | chr15:53402322-53402323 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs370113840 | chr15:53402323-53402324 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs371813869 | chr15:53402324-53402325 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs386784030 | chr15:53402338-53402339 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs186584660 | chr15:53402369-53402370 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs564263861 | chr15:53402388-53402389 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs16965511 | chr15:53402396-53402397 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:58)
| 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 |
| Breast cancer | 21785460 | 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 |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:53398000-53402600 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 2 | chr15:53400800-53402600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 3 | chr15:53401000-53402600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 4 | chr15:53401200-53403000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 5 | chr15:53402200-53403400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
