Variant report
| Variant | esv16851 |
|---|---|
| Chromosome Location | chr15:83165871-83177730 |
| 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:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs320873 | chr15:83166213-83166214 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs320874 | chr15:83166236-83166237 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs572732158 | chr15:83166239-83166240 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs183632836 | chr15:83166242-83166243 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs2416621 | chr15:83166262-83166263 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs560860889 | chr15:83166311-83166312 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs529752245 | chr15:83166320-83166321 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs543524098 | chr15:83166337-83166338 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs28370998 | chr15:83166409-83166410 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs185899430 | chr15:83166431-83166432 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs532115134 | chr15:83166445-83166446 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs28394040 | chr15:83166475-83166476 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs374488878 | chr15:83166476-83166477 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs145003308 | chr15:83166478-83166479 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs565781500 | chr15:83166479-83166480 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs528357273 | chr15:83166503-83166504 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs556027624 | chr15:83166529-83166530 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs573261704 | chr15:83166531-83166532 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs548113662 | chr15:83166561-83166562 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Wilms tumour | 21544195 | 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 |
| 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 |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Cancer | 16751803 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Autism | 17322880 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Papillary thyroid carcinoma | 22161024 | CNVD |
| Autism | 21480499 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| abnormal development | 18461090 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| renal disease | 17924346 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:83166200-83166600 | Enhancers | Stomach Mucosa | stomach |
| 2 | chr15:83166200-83166600 | Enhancers | HepG2 | liver |
