Variant report
| Variant | esv19641 |
|---|---|
| Chromosome Location | chr4:130954417-130954973 |
| 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:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs544741771 | chr4:130954421-130954422 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs144293499 | chr4:130954422-130954423 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs184127193 | chr4:130954466-130954467 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs139215950 | chr4:130954477-130954478 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs545789622 | chr4:130954490-130954491 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs562034896 | chr4:130954491-130954492 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs370469908 | chr4:130954507-130954508 | Enhancers Weak transcription Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs60016092 | chr4:130954586-130954587 | Enhancers Weak transcription Strong transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs557293350 | chr4:130954613-130954614 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs74814453 | chr4:130954627-130954628 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs565709391 | chr4:130954676-130954677 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs545066057 | chr4:130954689-130954690 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs377232624 | chr4:130954713-130954714 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs551569168 | chr4:130954717-130954718 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs569863616 | chr4:130954735-130954736 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs188311419 | chr4:130954746-130954747 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs192592102 | chr4:130954754-130954755 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs567577355 | chr4:130954798-130954799 | Weak transcription Enhancers Strong transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs534885718 | chr4:130954833-130954834 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs375743658 | chr4:130954852-130954853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs553018008 | chr4:130954919-130954920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs576345816 | chr4:130954926-130954927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:72)
| 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 |
| 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 |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal squamous carcinoma | 18350619 | 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 |
| Lung cancer | 19208797 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 22429812 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Cancer | 21183584 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Colorectal cancer | 20459617 | 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 |
| Colorectal cancer | 16272173 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Lung squamous cell carcinoma | 22363434 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:130946600-130959600 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 2 | chr4:130950800-130959600 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 3 | chr4:130952000-130954800 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 4 | chr4:130952600-130965000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 5 | chr4:130952800-130954800 | Strong transcription | iPS-20b Cell Line | embryonic stem cell |
| 6 | chr4:130953000-130954600 | Strong transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 7 | chr4:130953400-130954800 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 8 | chr4:130953800-130954600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 9 | chr4:130954000-130954800 | Strong transcription | iPS-18 Cell Line | embryonic stem cell |
| 10 | chr4:130954600-130960600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 11 | chr4:130954800-130966000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 12 | chr4:130954800-130966200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
| 13 | chr4:130954800-130966600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
