Variant report
| Variant | esv3437878 |
|---|---|
| Chromosome Location | chr3:111860487-111860949 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000144848 | chromatin interactions |
| ENSG00000091986 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs533643177 | chr3:111860514-111860515 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs1492479 | chr3:111860546-111860547 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs188322228 | chr3:111860643-111860644 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 4 | rs529445784 | chr3:111860660-111860661 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 5 | rs549207930 | chr3:111860666-111860667 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 6 | rs568992426 | chr3:111860674-111860675 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 7 | rs114616935 | chr3:111860722-111860723 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 8 | rs372908969 | chr3:111860788-111860789 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 9 | rs371121669 | chr3:111860827-111860828 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 10 | rs551721401 | chr3:111860832-111860833 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 11 | rs141608144 | chr3:111860863-111860864 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 12 | rs146207011 | chr3:111860879-111860880 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 13 | rs139239137 | chr3:111860891-111860892 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 14 | rs192488229 | chr3:111860926-111860927 | Weak transcription | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Melanoma | 18172304 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| microdeletion syndrome | 22180640 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Melanoma | 21693616 | CNVD |
| Lung cancer | 21426551 | CNVD |
| Cancer | 21637783 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Cancer | 22065749 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 16608533 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Developmental delay | 22180640 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Attention deficit hyperactivity disorder | 22180640 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:111852200-111863400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr3:111853400-111867400 | Weak transcription | Gastric | stomach |
| 3 | chr3:111856200-111867400 | Weak transcription | Thymus | Thymus |
| 4 | chr3:111856200-111867600 | Weak transcription | Left Ventricle | heart |
| 5 | chr3:111856400-111861800 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
| 6 | chr3:111856400-111862400 | Weak transcription | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 7 | chr3:111857000-111861000 | Weak transcription | Primary hematopoietic stem cells | blood |
| 8 | chr3:111858800-111862400 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
| 9 | chr3:111860200-111860600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
