Variant report
| Variant | esv3514569 |
|---|---|
| Chromosome Location | chr5:16149969-16150834 |
| 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 |
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Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs539982588 | chr5:16150014-16150015 | ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs4624790 | chr5:16150021-16150022 | ZNF genes & repeats Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs578130494 | chr5:16150038-16150039 | ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs545223394 | chr5:16150047-16150048 | ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs564030426 | chr5:16150062-16150063 | ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs111565321 | chr5:16150077-16150078 | ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs549684508 | chr5:16150098-16150099 | ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs561295593 | chr5:16150130-16150131 | ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs370729529 | chr5:16150149-16150150 | ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs116662791 | chr5:16150152-16150153 | ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs547158972 | chr5:16150199-16150200 | ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs142507569 | chr5:16150250-16150251 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs114623319 | chr5:16150251-16150252 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs3910974 | chr5:16150284-16150285 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 15 | rs569017141 | chr5:16150321-16150322 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs192432457 | chr5:16150344-16150345 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs35155131 | chr5:16150348-16150349 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs183852305 | chr5:16150391-16150392 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs3910975 | chr5:16150392-16150393 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs572543218 | chr5:16150398-16150399 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs535434670 | chr5:16150462-16150463 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs533504424 | chr5:16150472-16150473 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs558232437 | chr5:16150520-16150521 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs374099699 | chr5:16150533-16150534 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs576835549 | chr5:16150536-16150537 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs75984423 | chr5:16150542-16150543 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs150939381 | chr5:16150551-16150552 | Weak transcription ZNF genes & repeats Genic enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs3910976 | chr5:16150621-16150622 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 29 | rs543389843 | chr5:16150644-16150645 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs3910977 | chr5:16150650-16150651 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 31 | rs35052953 | chr5:16150666-16150667 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs141414693 | chr5:16150692-16150693 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs143868991 | chr5:16150714-16150715 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs2591983 | chr5:16150721-16150722 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 35 | rs2591984 | chr5:16150723-16150724 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 36 | rs146955047 | chr5:16150775-16150776 | Weak transcription ZNF genes & repeats Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:90)
| Disease | PMID | Source |
|---|---|---|
| Lung cancer | 19547694 | CNVD |
| Cri-du chat syndrome | 22283845 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Cancer | 21183584 | CNVD |
| Cervical squamous cell carcinoma | 21590768 | CNVD |
| Honadal dysgenesis | 21048976 | CNVD |
| Cancer | 16751803 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Cervical Cancer | 21857958 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Cervical cancer | 18559093 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Phyllodes tumor | 17334353 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Gastric cancer | 22152101 | CNVD |
| Oesophago-gastric ulcer | 22152101 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Cancer | 20164919 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| prenatal diagnosis | 22389664 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| DNA damage stimulus | 22844521 | CNVD |
| DNA repair | 22844521 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Spinal muscular atrophy | 22422766 | CNVD |
| Spinal muscular atrophy | 22558076 | CNVD |
| Spinal muscular atrophy | 21320981 | CNVD |
| Spinal muscular atrophy | 21762474 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Gastrointestinal stromal cancer | 20818650 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Anaplastic large cell lymphoma | 18179710 | CNVD |
| Autism | 22495311 | CNVD |
| Melanoma | 18172304 | CNVD |
| Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Ovarian clear cell carcinoma | 19293255 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Acute lymphoblastic leukemia | 17640729 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:16149600-16150000 | Transcr. at gene 5' and 3' | Fetal Heart | heart |
| 2 | chr5:16149600-16151200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr5:16150000-16150600 | Genic enhancers | Fetal Heart | heart |
| 4 | chr5:16150200-16153200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 5 | chr5:16150600-16151200 | Enhancers | Fetal Heart | heart |
