Variant report
| Variant | esv1813665 |
|---|---|
| Chromosome Location | chr11:119951923-119956750 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs141378860 | chr11:119951950-119951951 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs559415679 | chr11:119951951-119951952 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs201737895 | chr11:119951963-119951964 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs146983189 | chr11:119951969-119951970 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs551512231 | chr11:119951985-119951986 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs12418431 | chr11:119952007-119952008 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs570217298 | chr11:119952024-119952025 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs12418418 | chr11:119952028-119952029 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs12418420 | chr11:119952039-119952040 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12418421 | chr11:119952040-119952041 | ZNF genes & repeats Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs537246051 | chr11:119952045-119952046 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs187860250 | chr11:119952063-119952064 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs567849116 | chr11:119952065-119952066 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs535349475 | chr11:119952070-119952071 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs191637327 | chr11:119952104-119952105 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs75479158 | chr11:119952105-119952106 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs184453215 | chr11:119952122-119952123 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs367814257 | chr11:119952131-119952132 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs372678390 | chr11:119952137-119952138 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs2508631 | chr11:119952154-119952155 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs557029903 | chr11:119952188-119952189 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs575372313 | chr11:119952192-119952193 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs2848726 | chr11:119952215-119952216 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs543233512 | chr11:119952217-119952218 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs2848717 | chr11:119952252-119952253 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs561945065 | chr11:119952253-119952254 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs2848718 | chr11:119952254-119952255 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs200911800 | chr11:119952259-119952260 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs4938771 | chr11:119952265-119952266 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs2848719 | chr11:119952266-119952267 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs2848720 | chr11:119952267-119952268 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs75001722 | chr11:119952273-119952274 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs4938772 | chr11:119952289-119952290 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs573828041 | chr11:119952298-119952299 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs78642088 | chr11:119952299-119952300 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs2924345 | chr11:119952303-119952304 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs2924344 | chr11:119952304-119952305 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs532962086 | chr11:119952305-119952306 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs3017076 | chr11:119952310-119952311 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs78986249 | chr11:119952311-119952312 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs563363953 | chr11:119952313-119952314 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs111939733 | chr11:119952325-119952326 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs530665703 | chr11:119952328-119952329 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs549282076 | chr11:119952342-119952343 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs567863180 | chr11:119952357-119952358 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs199661497 | chr11:119952425-119952426 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs534965183 | chr11:119952426-119952427 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs546890757 | chr11:119952431-119952432 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs571652937 | chr11:119952453-119952454 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs538636002 | chr11:119952484-119952485 | ZNF genes & repeats Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:109)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Cancer | 21637783 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Chronic lymphocytic leukemia | 21795749 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Neuroblastoma | 21484798 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Neuroblastoma | 18923524 | CNVD |
| Neuroblastoma | 18664255 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Neuroblastoma | 17533364 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 16751803 | CNVD |
| Seminomas | 18059402 | CNVD |
| Cervical cancer | 21062161 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Cancer | 22429812 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Melanoma | 18172304 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21958427 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Acute lymphoblastic leukemia | 21098271 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Mental retardation | 19966786 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Neuroblastoma | 17327916 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Emanuel syndrome | 21549014 | CNVD |
| Emanuel syndrome | 18184694 | CNVD |
| Non-syndromic sensorineural hearing loss | 18184694 | CNVD |
| Acute lymphoblastic leukemia | 22581003 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Chronic lymphocytic leukemia | 21049055 | CNVD |
| Cancer | 21183584 | CNVD |
| Retinoblastoma | 22278416 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Non-syndromic sensorineural hearing loss | 16829213 | CNVD |
| Non-syndromic sensorineural hearing loss | 16760666 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Central neurocytomas | 17123091 | CNVD |
| Congenital diaphragmatic hernia | 21525063 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Ovine squamous-cell carcinoma | 17599052 | CNVD |
| Acute myeloid leukemia | 19651601 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Breast cancer | 20409316 | CNVD |
| Salivary gland adenoid cystic carcinoma | 17545515 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Non-small cell lung cancer | 21385341 | CNVD |
| Acute lymphoblastic leukemia | 17443227 | CNVD |
| Heart disease | 20551144 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Autism | 22543975 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Schizophrenia | 23813976 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:119950400-119956400 | Weak transcription | Brain Substantia Nigra | brain |
| 2 | chr11:119950800-119954600 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 3 | chr11:119950800-119956400 | Weak transcription | Brain Hippocampus Middle | brain |
| 4 | chr11:119951200-119956400 | Weak transcription | Brain Cingulate Gyrus | brain |
| 5 | chr11:119951600-119953200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 6 | chr11:119951800-119953400 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 7 | chr11:119953400-119954400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 8 | chr11:119954400-119955000 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 9 | chr11:119954600-119955000 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
| 10 | chr11:119954600-119955000 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 11 | chr11:119954800-119955000 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 12 | chr11:119954800-119955200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 13 | chr11:119954800-119955200 | Bivalent Enhancer | Adipose Nuclei | Adipose |
| 14 | chr11:119955000-119956400 | Weak transcription | Brain Inferior Temporal Lobe | brain |
| 15 | chr11:119955200-119956200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 16 | chr11:119955400-119961000 | Weak transcription | Esophagus | oesophagus |
| 17 | chr11:119956200-119957200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
| 18 | chr11:119956400-119959200 | Enhancers | Brain Angular Gyrus | brain |
| 19 | chr11:119956400-119959400 | Enhancers | Brain Anterior Caudate | brain |
| 20 | chr11:119956400-119959400 | Enhancers | Brain Hippocampus Middle | brain |
| 21 | chr11:119956400-119959400 | Enhancers | Brain Inferior Temporal Lobe | brain |
| 22 | chr11:119956400-119959400 | Enhancers | Brain Substantia Nigra | brain |
| 23 | chr11:119956400-119959800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 24 | chr11:119956400-119962800 | Enhancers | Brain Cingulate Gyrus | brain |
| 25 | chr11:119956600-119957600 | Enhancers | Fetal Brain Male | brain |
