Variant report
| Variant | esv3384917 |
|---|---|
| Chromosome Location | chr13:92646967-92647253 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs543556108 | chr13:92646973-92646974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs563094331 | chr13:92646979-92646980 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs538860603 | chr13:92647007-92647008 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs61049774 | chr13:92647058-92647059 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs191895143 | chr13:92647063-92647064 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs7335305 | chr13:92647085-92647086 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs372627310 | chr13:92647120-92647121 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs376006464 | chr13:92647123-92647124 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs201190233 | chr13:92647124-92647125 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs397726965 | chr13:92647127-92647128 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs367648893 | chr13:92647128-92647129 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs183683562 | chr13:92647172-92647173 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs566351469 | chr13:92647214-92647215 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs58393318 | chr13:92647241-92647242 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| 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 |
| 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 |
| Metanephric adenoma | 20802469 | 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 |
| 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 |
| 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 |
| Medulloblastoma | 19270706 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| coloboma | 21285886 | CNVD |
| Cancer | 20164920 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Effusion lymphoma | 18079361 | CNVD |
| Developmental delay | 21147756 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:92645400-92647000 | Enhancers | Brain Substantia Nigra | brain |
| 2 | chr13:92645800-92648400 | Enhancers | Brain Cingulate Gyrus | brain |
| 3 | chr13:92646400-92647000 | Enhancers | Brain Hippocampus Middle | brain |
| 4 | chr13:92646400-92647000 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 5 | chr13:92646600-92647800 | Enhancers | Brain Anterior Caudate | brain |
| 6 | chr13:92647000-92648200 | Weak transcription | Brain Hippocampus Middle | brain |
| 7 | chr13:92647000-92649400 | Weak transcription | Brain Substantia Nigra | brain |
