Variant report
| Variant | esv3357306 |
|---|---|
| Chromosome Location | chr15:53652906-53653433 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:226296765..226299191-chr15:53650573..53653066,2 | MCF-7 | breast: |
| 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 | rs377616213 | chr15:53652908-53652909 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs569588060 | chr15:53652930-53652931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs545627108 | chr15:53652934-53652935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs559086591 | chr15:53652939-53652940 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs149334799 | chr15:53652962-53652963 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs272786 | chr15:53652965-53652966 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs554905312 | chr15:53653000-53653001 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs77787718 | chr15:53653081-53653082 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs272787 | chr15:53653091-53653092 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs143580443 | chr15:53653163-53653164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs148034455 | chr15:53653166-53653167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs533433731 | chr15:53653250-53653251 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs547240416 | chr15:53653251-53653252 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs567026201 | chr15:53653309-53653310 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs548585677 | chr15:53653337-53653338 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs185617274 | chr15:53653340-53653341 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs536322170 | chr15:53653350-53653351 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs141719844 | chr15:53653360-53653361 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs367562892 | chr15:53653366-53653367 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs114279268 | chr15:53653383-53653384 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs147189141 | chr15:53653412-53653413 | Weak transcription | n/a | n/a | Overlapped CNVs | 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 | chr15:53652200-53654800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr15:53653200-53653400 | Enhancers | Sigmoid Colon | Sigmoid Colon |
