Variant report
| Variant | esv3327188 |
|---|---|
| Chromosome Location | chr8:52628457-52628949 |
| 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:17 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs564955384 | chr8:52628468-52628469 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs574348831 | chr8:52628469-52628470 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs189787335 | chr8:52628476-52628477 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs546649860 | chr8:52628479-52628480 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs139600331 | chr8:52628576-52628577 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs538429769 | chr8:52628684-52628685 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs530776556 | chr8:52628717-52628718 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs142561395 | chr8:52628725-52628726 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs575436065 | chr8:52628790-52628791 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs369333558 | chr8:52628795-52628796 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs13261618 | chr8:52628820-52628821 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 12 | rs150523023 | chr8:52628844-52628845 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs572827959 | chr8:52628889-52628890 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs540240002 | chr8:52628892-52628893 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs181308627 | chr8:52628903-52628904 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs186925712 | chr8:52628913-52628914 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs545249726 | chr8:52628917-52628918 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:90)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 16751803 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Developmental delay | 21373258 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| abnormal development | 18461090 | CNVD |
| Cancer | 20164920 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:52626400-52633200 | Weak transcription | Fetal Lung | lung |
| 2 | chr8:52628000-52631000 | Enhancers | Placenta Amnion | Placenta Amnion |
| 3 | chr8:52628000-52631200 | Enhancers | Skeletal Muscle Female | skeletal muscle |
| 4 | chr8:52628200-52628800 | Enhancers | Left Ventricle | heart |
| 5 | chr8:52628800-52633400 | Weak transcription | Left Ventricle | heart |
