Variant report
| Variant | nsv1020052 |
|---|---|
| Chromosome Location | chr9:25718004-25737726 |
| 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 | chr9:25736248..25739126-chr9:25740036..25742643,2 | 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 | rs1231331 | chr9:25718004-25718005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs188327067 | chr9:25718014-25718015 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs7034776 | chr9:25718023-25718024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs181098770 | chr9:25718024-25718025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs531630429 | chr9:25718039-25718040 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs552960495 | chr9:25718049-25718050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs115409525 | chr9:25718050-25718051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs200368679 | chr9:25718097-25718098 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs538696062 | chr9:25718106-25718107 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs74624640 | chr9:25718126-25718127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs141548353 | chr9:25718166-25718167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs542504917 | chr9:25718172-25718173 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs566867377 | chr9:25718226-25718227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs114744300 | chr9:25718250-25718251 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs61607792 | chr9:25718264-25718265 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs540156302 | chr9:25718265-25718266 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs16909648 | chr9:25718279-25718280 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs60016118 | chr9:25718286-25718287 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs544668714 | chr9:25718297-25718298 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs551339397 | chr9:25718312-25718313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs562885246 | chr9:25718350-25718351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs185794038 | chr9:25718391-25718392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs569978592 | chr9:25718422-25718423 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs139529954 | chr9:25718458-25718459 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs567075205 | chr9:25718461-25718462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs535326448 | chr9:25718464-25718465 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs556841627 | chr9:25718465-25718466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs575368948 | chr9:25718477-25718478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs539275931 | chr9:25718512-25718513 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs188948323 | chr9:25718521-25718522 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs371026128 | chr9:25718566-25718567 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs181782051 | chr9:25718571-25718572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs186873188 | chr9:25718574-25718575 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs192266539 | chr9:25718589-25718590 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs550647892 | chr9:25718601-25718602 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs568902152 | chr9:25718653-25718654 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs553588068 | chr9:25718665-25718666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs536357592 | chr9:25718673-25718674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs557823691 | chr9:25718692-25718693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs531030702 | chr9:25718707-25718708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs145602396 | chr9:25718722-25718723 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs184056024 | chr9:25718724-25718725 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs572715438 | chr9:25718741-25718742 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs533821086 | chr9:25718750-25718751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs114445565 | chr9:25718800-25718801 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs577162929 | chr9:25718812-25718813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs544318575 | chr9:25718836-25718837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs115013351 | chr9:25718844-25718845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs574791478 | chr9:25718870-25718871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs184912409 | chr9:25718885-25718886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:119)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 16608533 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Melanoma | 18172304 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Gastric cancer | 21586687 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Myopathy | 18421352 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Acute lymphoblastic leukemia | 18957548 | CNVD |
| Myeloproliferative neoplasm | 17564968 | CNVD |
| Malignant meningioma | 17937814 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Glioma | 21971842 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Cutaneous squamous cell carcinomas | 19131950 | CNVD |
| Small bowel adenocarcinoma | 21586687 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Chordoma | 18071362 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Cancer | 20164919 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Autism | 22495311 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Pilocytic astrocytoma | 18670637 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Melanoma | 22183965 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Non-small cell lung cancer | 19010865 | CNVD |
| Myoepithelioma | 18604193 | CNVD |
| Cancer | 22183965 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Coronary Disease | 20032323 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21732550 | CNVD |
| Gastric cancer | 22539939 | CNVD |
| Cancer | 21183584 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Non-small cell lung cancer | 20864512 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Glioblastoma | 17090523 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Bladder cancer | 19088036 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Melanoma | 16977458 | CNVD |
| Glioblastoma multiforme | 17369134 | CNVD |
| Chagasic megaesophagus | 20163722 | CNVD |
| Melanoma | 19566914 | CNVD |
| Squamous cell cancer | 19047905 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Malignant mesothelioma | 18160781 | CNVD |
| Pleural malignant mesothelioma | 18160781 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| Adenoid cystic carcinoma | 18332873 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Esophageal adenocarcinoma | 18519675 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Urothelial cell carcinoma | 18451213 | CNVD |
| polycythaemia | 22829968 | CNVD |
| Neuroblastoma | 21899760 | CNVD |
| Breast cancer | 21364760 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:25716400-25721200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 2 | chr9:25716400-25721800 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
| 3 | chr9:25716800-25724400 | Weak transcription | Fetal Kidney | kidney |
| 4 | chr9:25721000-25721600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 5 | chr9:25721000-25721800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 6 | chr9:25721000-25721800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 7 | chr9:25721200-25721800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 8 | chr9:25721600-25724000 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 9 | chr9:25721800-25722400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 10 | chr9:25721800-25724000 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 11 | chr9:25721800-25724200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 12 | chr9:25721800-25724400 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 13 | chr9:25724000-25724600 | Active TSS | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 14 | chr9:25724000-25724600 | Active TSS | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 15 | chr9:25724200-25724600 | Enhancers | Muscle Satellite Cultured Cells | -- |
| 16 | chr9:25724200-25724600 | Enhancers | Hela-S3 | cervix |
| 17 | chr9:25724200-25724600 | Active TSS | HMEC | breast |
| 18 | chr9:25724200-25724600 | Active TSS | NHEK | skin |
| 19 | chr9:25724200-25725600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 20 | chr9:25724400-25724600 | Enhancers | Fetal Kidney | kidney |
| 21 | chr9:25724400-25725000 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 22 | chr9:25724600-25727200 | Weak transcription | Fetal Kidney | kidney |
| 23 | chr9:25726800-25727200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 24 | chr9:25726800-25727400 | Enhancers | Rectal Smooth Muscle | rectum |
| 25 | chr9:25727000-25727800 | Enhancers | Fetal Stomach | stomach |
| 26 | chr9:25727200-25728400 | Enhancers | Fetal Kidney | kidney |
| 27 | chr9:25731200-25731800 | Enhancers | Gastric | stomach |
| 28 | chr9:25731200-25732800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
