Variant report
| Variant | esv3406826 |
|---|---|
| Chromosome Location | chr4:59821307-59823355 |
| 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:23 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs184142335 | chr4:59823034-59823035 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs560373946 | chr4:59823038-59823039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs572691336 | chr4:59823048-59823049 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs73205203 | chr4:59823090-59823091 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs561352104 | chr4:59823103-59823104 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs528969767 | chr4:59823112-59823113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs190805290 | chr4:59823121-59823122 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562596150 | chr4:59823126-59823127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs147243341 | chr4:59823139-59823140 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs551434666 | chr4:59823146-59823147 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs568828167 | chr4:59823148-59823149 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs566753613 | chr4:59823164-59823165 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs374231671 | chr4:59823168-59823169 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs12501468 | chr4:59823179-59823180 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs77503585 | chr4:59823209-59823210 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs572988178 | chr4:59823214-59823215 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs78707927 | chr4:59823222-59823223 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs537670712 | chr4:59823234-59823235 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs556191417 | chr4:59823237-59823238 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs577725323 | chr4:59823246-59823247 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs148285500 | chr4:59823288-59823289 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs141331182 | chr4:59823291-59823292 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs150775463 | chr4:59823340-59823341 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:77)
| Disease | PMID | Source |
|---|---|---|
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| 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 |
| Non-small cell lung cancer | 21829676 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Multiple myeloma | 16616336 | 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 |
| Colorectal cancer | 16272173 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Lung cancer | 19208797 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Intellectual disability | 22045946 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Osteoporosis | 18992858 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:59823000-59823600 | Enhancers | Adipose Nuclei | Adipose |
