Variant report
| Variant | esv3385064 |
|---|---|
| Chromosome Location | chr11:9017285-9017559 |
| 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:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000175352 | chromatin interactions |
| ENSG00000253973 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs549927492 | chr11:9017308-9017309 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 2 | rs530267127 | chr11:9017366-9017367 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 3 | rs540972432 | chr11:9017367-9017368 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 4 | rs554026228 | chr11:9017425-9017426 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 5 | rs7124403 | chr11:9017463-9017464 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 6 | rs541967002 | chr11:9017535-9017536 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
| 7 | rs370479503 | chr11:9017538-9017539 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:66)
| Disease | PMID | Source |
|---|---|---|
| Neuroblastoma | 18923191 | CNVD |
| Breast cancer | 19432969 | CNVD |
| Alzheimer''s disease | 17576883 | CNVD |
| Long-qt syndrome | 17576883 | CNVD |
| Emphysema | 19352772 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Chordoma | 18071362 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Cancer | 21183584 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Melanoma | 18172304 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Parathyroid adenoma | 22454399 | CNVD |
| Chordoma | 21602918 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Beckwith-Wiedemann syndrome | 21518781 | CNVD |
| Wilms tumour | 21518781 | CNVD |
| Hepatoblastoma | 21518781 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Autism | 22495311 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioma | 17123091 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Neuroblastoma | 21124317 | CNVD |
| Lung adenocarcinoma | 17086460 | CNVD |
| Lung cancer | 17086460 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Cancer | 17160897 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Dysmorphic features | 22052655 | CNVD |
| Intellectual disability | 22052655 | CNVD |
| Obesity | 22052655 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Ependymoma | 20639864 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:8989600-9019600 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 2 | chr11:9011000-9023200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 3 | chr11:9011800-9023000 | Weak transcription | NHDF-Ad | bronchial |
| 4 | chr11:9015600-9017800 | Enhancers | K562 | blood |
| 5 | chr11:9016000-9019400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
