Variant report
Variant | esv3465634 |
---|---|
Chromosome Location | chr4:87066302-87066563 |
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 |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs542722112 | chr4:87066339-87066340 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs560969990 | chr4:87066344-87066345 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs575982542 | chr4:87066369-87066370 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs544111198 | chr4:87066370-87066371 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs562484885 | chr4:87066371-87066372 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs533076562 | chr4:87066372-87066373 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs372874343 | chr4:87066384-87066385 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs540692243 | chr4:87066386-87066387 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs560053239 | chr4:87066387-87066388 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs374683131 | chr4:87066407-87066408 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs527400605 | chr4:87066431-87066432 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs549050079 | chr4:87066459-87066460 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs74401800 | chr4:87066504-87066505 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs74380464 | chr4:87066538-87066539 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs62305535 | chr4:87066541-87066542 | Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 17603634 | CNVD |
Parkinson disease | 21956041 | CNVD |
Mental retardation | 20522426 | CNVD |
delayed speech | 20522426 | CNVD |
growth disorder | 20522426 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Parkinson disease | 18923514 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 16272173 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
4q-syndrome | 17576883 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Muscular dystrophy | 21149563 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cervical cancer | 21062161 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 16608533 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Lung cancer | 19208797 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21785460 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 18414403 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17133270 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Colorectal cancer | 20459617 | CNVD |
Cancer | 20164919 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:87035800-87077600 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
2 | chr4:87051000-87070200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
3 | chr4:87052000-87114200 | Weak transcription | Ovary | ovary |
4 | chr4:87061200-87073600 | Weak transcription | Aorta | Aorta |
5 | chr4:87062200-87069600 | Strong transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
6 | chr4:87064000-87072200 | Strong transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
7 | chr4:87064800-87082000 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
8 | chr4:87066200-87082200 | Weak transcription | Fetal Stomach | stomach |