Variant report
| Variant | esv3520319 |
|---|---|
| Chromosome Location | chr13:89498851-89503749 |
| 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:29 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs563738383 | chr13:89502611-89502612 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs187242617 | chr13:89502642-89502643 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs368482980 | chr13:89502721-89502722 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs541485346 | chr13:89502770-89502771 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs543299292 | chr13:89502773-89502774 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs3864987 | chr13:89502819-89502820 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs191674006 | chr13:89502831-89502832 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs540872290 | chr13:89502865-89502866 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs554940094 | chr13:89502879-89502880 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs77726900 | chr13:89502917-89502918 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs527780541 | chr13:89502943-89502944 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs552731951 | chr13:89502954-89502955 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs570843023 | chr13:89503035-89503036 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs184797348 | chr13:89503065-89503066 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs9588517 | chr13:89503076-89503077 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs572032414 | chr13:89503083-89503084 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs369281633 | chr13:89503148-89503149 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs550465902 | chr13:89503169-89503170 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs2808807 | chr13:89503188-89503189 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs187706656 | chr13:89503240-89503241 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs563936719 | chr13:89503247-89503248 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs558097831 | chr13:89503260-89503261 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs192681612 | chr13:89503298-89503299 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs2808808 | chr13:89503307-89503308 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs539140623 | chr13:89503319-89503320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs557467529 | chr13:89503336-89503337 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs7139923 | chr13:89503353-89503354 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 28 | rs140130695 | chr13:89503368-89503369 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs74580150 | chr13:89503399-89503400 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:84)
| 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 |
| Myoepithelioma | 18604193 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Prostate cancer | 18632612 | 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 |
| 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 |
| Cancer | 21220470 | CNVD |
| Cancer | 21183584 | CNVD |
| Omodysplasia | 19481194 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Mantle cell lymphoma | 19690137 | CNVD |
| Rhabdomyosarcoma | 17210683 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| coloboma | 21285886 | CNVD |
| Cancer | 20164920 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:89502600-89503400 | Enhancers | Fetal Heart | heart |
