Variant report
| Variant | esv3382439 |
|---|---|
| Chromosome Location | chr4:158576852-158579300 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:158578546..158581523-chr4:158583240..158586033,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
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 | rs188207992 | chr4:158576918-158576919 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs538238836 | chr4:158576947-158576948 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs192757471 | chr4:158576974-158576975 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs570018172 | chr4:158577119-158577120 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs537313012 | chr4:158577148-158577149 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs375169754 | chr4:158577182-158577183 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs6842465 | chr4:158577252-158577253 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs6842990 | chr4:158577257-158577258 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs10017629 | chr4:158577288-158577289 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs184313700 | chr4:158577313-158577314 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs9995432 | chr4:158577315-158577316 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 12 | rs545420839 | chr4:158577333-158577334 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs563641800 | chr4:158577371-158577372 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs6847661 | chr4:158577397-158577398 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Variant related diseases (count:79)
| 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 |
| Breast cancer | 21858162 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | 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 |
| Lung cancer | 19208797 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 17133270 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
| Breast cancer | 17393978 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 21633010 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20581869 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 20164919 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Melanoma | 17363583 | CNVD |
| Autism | 20841430 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:158574200-158577400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 2 | chr4:158575600-158577400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 3 | chr4:158576000-158577000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 4 | chr4:158576200-158577000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 5 | chr4:158576200-158577000 | Enhancers | Brain Cingulate Gyrus | brain |
| 6 | chr4:158576200-158577400 | Enhancers | Adipose Nuclei | Adipose |
