Variant report
| Variant | esv3425818 |
|---|---|
| Chromosome Location | chr11:83231572-83231804 |
| 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:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs4573701 | chr11:83231580-83231581 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs78675242 | chr11:83231602-83231603 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs4341564 | chr11:83231605-83231606 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs577759935 | chr11:83231639-83231640 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs12807788 | chr11:83231647-83231648 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs12808284 | chr11:83231666-83231667 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs545086727 | chr11:83231670-83231671 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs549314202 | chr11:83231671-83231672 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs372934263 | chr11:83231674-83231675 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs376232393 | chr11:83231678-83231679 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs61900136 | chr11:83231682-83231683 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs137949048 | chr11:83231683-83231684 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs371822686 | chr11:83231686-83231687 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs71066046 | chr11:83231710-83231711 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs28412935 | chr11:83231711-83231712 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs72946642 | chr11:83231723-83231724 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 17 | rs369248735 | chr11:83231734-83231735 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs72459775 | chr11:83231738-83231739 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs199908401 | chr11:83231739-83231740 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs113564722 | chr11:83231742-83231743 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs28568889 | chr11:83231754-83231755 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs71066047 | chr11:83231758-83231759 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs561639337 | chr11:83231775-83231776 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs73522620 | chr11:83231787-83231788 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:79)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Breast cancer | 17157792 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Cancer | 22429812 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Ovarian cancer | 20844748 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Melanoma | 19509136 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Cancer | 22183965 | CNVD |
| Melanoma | 22183965 | CNVD |
| Cancer | 20164920 | CNVD |
| Obesity | 20622171 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Cancer | 20164919 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:83222200-83231800 | Weak transcription | Brain Anterior Caudate | brain |
| 2 | chr11:83223400-83231600 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 3 | chr11:83229800-83236600 | Weak transcription | Pancreas | Pancrea |
| 4 | chr11:83231400-83233400 | Enhancers | Brain Angular Gyrus | brain |
| 5 | chr11:83231600-83232600 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 6 | chr11:83231600-83233000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 7 | chr11:83231800-83232000 | Enhancers | Brain Anterior Caudate | brain |
| 8 | chr11:83231800-83232200 | Enhancers | Brain Cingulate Gyrus | brain |
| 9 | chr11:83231800-83232600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 10 | chr11:83231800-83233000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 11 | chr11:83231800-83233000 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
| 12 | chr11:83231800-83233000 | Enhancers | HepG2 | liver |
| 13 | chr11:83231800-83233400 | Enhancers | Brain Substantia Nigra | brain |
