Variant report
| Variant | esv3446916 |
|---|---|
| Chromosome Location | chr13:111240093-111240641 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs78946150 | chr13:111240181-111240182 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs182043436 | chr13:111240182-111240183 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs369802408 | chr13:111240186-111240187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs561550764 | chr13:111240200-111240201 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs529124280 | chr13:111240223-111240224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs9521860 | chr13:111240265-111240266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs28631163 | chr13:111240291-111240292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs547305099 | chr13:111240326-111240327 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs565723285 | chr13:111240328-111240329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs533392866 | chr13:111240397-111240398 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs199550217 | chr13:111240404-111240405 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs71127961 | chr13:111240405-111240406 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs143574169 | chr13:111240406-111240407 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs4508302 | chr13:111240410-111240411 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs4773223 | chr13:111240469-111240470 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 16 | rs570170943 | chr13:111240485-111240486 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs537158162 | chr13:111240493-111240494 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs577363937 | chr13:111240513-111240514 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs116867842 | chr13:111240567-111240568 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs185055652 | chr13:111240579-111240580 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs371701213 | chr13:111240586-111240587 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs142959755 | chr13:111240609-111240610 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs150932105 | chr13:111240610-111240611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:91)
| 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 |
| 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 |
| Neuroblastoma | 18923191 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Melanoma | 18172304 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Medulloblastoma | 19270706 | CNVD |
| Mental retardation | 17124404 | CNVD |
| Leukemia | 18688285 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Melanoma | 17363583 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| abnormal development | 18461090 | CNVD |
| Malignant glioma | 17146433 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
| Glioma | 17123091 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Mantle cell lymphoma | 19029149 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:111228600-111243000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr13:111235800-111242000 | Weak transcription | HepG2 | liver |
| 3 | chr13:111240400-111240600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
