Variant report
| Variant | esv2512743 |
|---|---|
| Chromosome Location | chr8:113085058-113086663 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs540793172 | chr8:113086005-113086006 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs567011869 | chr8:113086042-113086043 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs187751179 | chr8:113086068-113086069 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs13260037 | chr8:113086092-113086093 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs142217044 | chr8:113086095-113086096 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs145810630 | chr8:113086145-113086146 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs34773793 | chr8:113086259-113086260 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562789674 | chr8:113086269-113086270 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs73335206 | chr8:113086274-113086275 | Enhancers Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs562936448 | chr8:113086326-113086327 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs531715612 | chr8:113086338-113086339 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs201351626 | chr8:113086345-113086346 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs575537062 | chr8:113086346-113086347 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs544564230 | chr8:113086367-113086368 | Enhancers Active TSS | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs138401319 | chr8:113086414-113086415 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs558054198 | chr8:113086478-113086479 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs562337457 | chr8:113086486-113086487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs371592527 | chr8:113086504-113086505 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs576651871 | chr8:113086509-113086510 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs547966244 | chr8:113086531-113086532 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs570952031 | chr8:113086535-113086536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs142878996 | chr8:113086614-113086615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:97)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Gastric cancer | 17908304 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Seminomas | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Testicular cancer | 18059402 | 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 |
| abnormal development | 18461090 | 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 |
| Glioblastoma multiforme | 21080181 | 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 |
| Cancer | 16751803 | 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 |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Breast cancer | 21399628 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Autosomal-dominant progressive external ophthalmoplegia | 19664747 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Congenital diaphragmatic hernia | 21525063 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Papillary thyroid cancer | 17515504 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Schizophrenia | 20967226 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:113086000-113086200 | Enhancers | Gastric | stomach |
| 2 | chr8:113086000-113086400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr8:113086000-113086400 | Active TSS | Skeletal Muscle Male | skeletal muscle |
| 4 | chr8:113086400-113095200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 5 | chr8:113086600-113087400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
