Variant report
| Variant | esv3462039 |
|---|---|
| Chromosome Location | chr3:75105171-75111316 |
| 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 | chr3:75105526..75106181-chr3:75220559..75221295,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs549680008 | chr3:75105173-75105174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs186019874 | chr3:75105203-75105204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs570727590 | chr3:75105284-75105285 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs565929867 | chr3:75105289-75105290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs114672606 | chr3:75105291-75105292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs190336103 | chr3:75105349-75105350 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs181887878 | chr3:75105364-75105365 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs368332508 | chr3:75105473-75105474 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs570168786 | chr3:75105508-75105509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs115707233 | chr3:75105518-75105519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs548974959 | chr3:75105526-75105527 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs149688329 | chr3:75105529-75105530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs538554037 | chr3:75105540-75105541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs187262082 | chr3:75105557-75105558 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs78331907 | chr3:75105562-75105563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs545840092 | chr3:75105566-75105567 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs577973365 | chr3:75105611-75105612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs146706707 | chr3:75105612-75105613 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs190832392 | chr3:75105690-75105691 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs78219203 | chr3:75105697-75105698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs111657570 | chr3:75105704-75105705 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs112328763 | chr3:75105726-75105727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs200019042 | chr3:75105794-75105795 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs564920871 | chr3:75105797-75105798 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs201839020 | chr3:75105804-75105805 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs386662408 | chr3:75105806-75105807 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs200314152 | chr3:75105807-75105808 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs200031887 | chr3:75105813-75105814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs369938952 | chr3:75105814-75105815 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs201532561 | chr3:75105816-75105817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs146795978 | chr3:75105817-75105818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs376825800 | chr3:75105819-75105820 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs200482868 | chr3:75105828-75105829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs371182804 | chr3:75105832-75105833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs199646564 | chr3:75105844-75105845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs200707691 | chr3:75105845-75105846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs147720416 | chr3:75105856-75105857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs71687960 | chr3:75105857-75105858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs386397074 | chr3:75105872-75105873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs56059065 | chr3:75105875-75105876 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs182974468 | chr3:75105880-75105881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs540830072 | chr3:75105928-75105929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs560172632 | chr3:75105930-75105931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs561912441 | chr3:75105954-75105955 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs527795703 | chr3:75105957-75105958 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs548938309 | chr3:75105982-75105983 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs187522029 | chr3:75105988-75105989 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs191603206 | chr3:75106030-75106031 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs145245309 | chr3:75106039-75106040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs138456603 | chr3:75106079-75106080 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:77)
| Disease | PMID | Source |
|---|---|---|
| Acute myeloid leukemia | 20729466 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Melanoma | 18172304 | CNVD |
| head and neck squamous cell carcinoma | 17671120 | CNVD |
| Insulin resistance | 16721378 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Non-small cell lung cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Epithelial cancer | 22065749 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Pancreatic endocrine tumor | 20981439 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Uveal melanoma | 20484589 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21183584 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Bipolar disorder | 20877625 | CNVD |
| Bipolar disorder | 21956041 | CNVD |
| Bipolar disorder | 22241247 | CNVD |
| Biliary cancer | 18923514 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Prostate cancer | 21965145 | CNVD |
| Cancer | 21129771 | CNVD |
| Congenital diaphragmatic hernia | 21085971 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Autism | 22102821 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Cancer | 20164919 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Bipolar disorder | 18458673 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Schizophrenia | 21399695 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Soft tissue tumor | 16732325 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:75104400-75108600 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 2 | chr3:75108600-75109000 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 3 | chr3:75110800-75111400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr3:75110800-75111400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 5 | chr3:75110800-75111400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 6 | chr3:75111000-75111400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 7 | chr3:75111000-75111400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
