Variant report
| Variant | esv3446018 |
|---|---|
| Chromosome Location | chr7:15891745-15892341 |
| 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:25 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs73058282 | chr7:15891751-15891752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs544745234 | chr7:15891754-15891755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs112528049 | chr7:15891755-15891756 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs563459606 | chr7:15891759-15891760 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs7797363 | chr7:15891804-15891805 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs548911722 | chr7:15891820-15891821 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs576093303 | chr7:15891828-15891829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs542877341 | chr7:15891833-15891834 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs114141174 | chr7:15891865-15891866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs549764928 | chr7:15891882-15891883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs145340099 | chr7:15891889-15891890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs539137126 | chr7:15891899-15891900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs59985680 | chr7:15891913-15891914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs572267441 | chr7:15891920-15891921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs566312108 | chr7:15891940-15891941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs138036133 | chr7:15891991-15891992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs140977826 | chr7:15892015-15892016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs576812077 | chr7:15892039-15892040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs192776780 | chr7:15892067-15892068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs540874639 | chr7:15892089-15892090 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs144897074 | chr7:15892161-15892162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs78727367 | chr7:15892203-15892204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs545115328 | chr7:15892209-15892210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs138775921 | chr7:15892231-15892232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs75227520 | chr7:15892271-15892272 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:83)
| Disease | PMID | Source |
|---|---|---|
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lynch syndrome | 18415027 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Cancer | 16751803 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Glioma | 21971842 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Oral cancer | 21386901 | CNVD |
| colon cancer | 17210682 | CNVD |
| Lung adenocarcinoma | 21810691 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Hypothalamic hamartomas | 18252217 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Medulloblastoma | 18056178 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Leukemia | 23979775 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Autism | 22495311 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Melanoma | 17363583 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Autism | 18414403 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Pleomorphic liposarcoma | 18784837 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Cancer | 21637783 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Cutaneous T-cell lymphoma | 21881587 | CNVD |
| Heart disease | 21282601 | CNVD |
| Rubinstein-Taybi syndrome | 22470819 | CNVD |
| Alzheimer''s disease | 22166940 | CNVD |
| Abnormal phenotypes | 18644119 | CNVD |
| Non-syndromic sensorineural hearing loss | 22570644 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:15888400-15893000 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 2 | chr7:15888600-15893000 | Weak transcription | Adipose Nuclei | Adipose |
| 3 | chr7:15888600-15893000 | Weak transcription | Osteobl | bone |
| 4 | chr7:15888600-15893200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 5 | chr7:15888600-15893200 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
| 6 | chr7:15888800-15893800 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 7 | chr7:15889400-15894400 | Weak transcription | Fetal Lung | lung |
| 8 | chr7:15891000-15893000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
| 9 | chr7:15891200-15892800 | Weak transcription | Fetal Muscle Leg | muscle |
