Variant report
| Variant | esv3346002 |
|---|---|
| Chromosome Location | chr13:86190401-86192449 |
| 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:31 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs370029209 | chr13:86191605-86191606 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs532488216 | chr13:86191649-86191650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs373328628 | chr13:86191695-86191696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs550536355 | chr13:86191737-86191738 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs569138391 | chr13:86191787-86191788 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs536685618 | chr13:86191793-86191794 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs554953552 | chr13:86191802-86191803 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs567198595 | chr13:86191818-86191819 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs76756618 | chr13:86191870-86191871 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs558737680 | chr13:86191922-86191923 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs149275312 | chr13:86191954-86191955 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs559202418 | chr13:86191976-86191977 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs147371149 | chr13:86192017-86192018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs545146841 | chr13:86192063-86192064 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs557120276 | chr13:86192079-86192080 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs575113817 | chr13:86192090-86192091 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs184114139 | chr13:86192117-86192118 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs560980613 | chr13:86192156-86192157 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs74607255 | chr13:86192195-86192196 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs528396388 | chr13:86192245-86192246 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs562171226 | chr13:86192258-86192259 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs55809352 | chr13:86192259-86192260 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs540007006 | chr13:86192270-86192271 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs564761850 | chr13:86192327-86192328 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs532205416 | chr13:86192329-86192330 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs550646883 | chr13:86192331-86192332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs186541762 | chr13:86192357-86192358 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs191366258 | chr13:86192371-86192372 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs1928129 | chr13:86192376-86192377 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 30 | rs567010439 | chr13:86192377-86192378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs534511177 | chr13:86192396-86192397 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:90)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| HIV/AIDS | 22032296 | CNVD |
| Prostate cancer | 16705090 | CNVD |
| High-proliferative meningiomas | 17937814 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Chordoma | 21602918 | CNVD |
| Bladder cancer | 21949216 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Chronic lymphocytic leukemia | 21518781 | CNVD |
| colon cancer | 17210682 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Intracranial aneurysm | 19064780 | CNVD |
| Breast cancer | 19287154 | CNVD |
| Acute myeloid leukemia | 18379011 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Colorectal cancer | 21586687 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Melanoma | 18172304 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| abnormal development | 18461090 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Cancer | 21220470 | CNVD |
| Cancer | 21183584 | CNVD |
| Omodysplasia | 19481194 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Cancer | 17160897 | CNVD |
| Mantle cell lymphoma | 19690137 | CNVD |
| Rhabdomyosarcoma | 17210683 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:86191600-86192400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
