Variant report
| Variant | esv17875 |
|---|---|
| Chromosome Location | chr11:120659070-120665253 |
| 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 | chr11:120655370..120658218-chr11:120660299..120663054,2 | K562 | blood: |
| 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 | rs17311477 | chr11:120659070-120659071 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs554036313 | chr11:120659078-120659079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs574744635 | chr11:120659098-120659099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs367825433 | chr11:120659104-120659105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs565732433 | chr11:120659187-120659188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs542180496 | chr11:120659238-120659239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs539759565 | chr11:120659242-120659243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs557774697 | chr11:120659248-120659249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs140371799 | chr11:120659264-120659265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs145284883 | chr11:120659268-120659269 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs549237694 | chr11:120659296-120659297 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs554911098 | chr11:120659313-120659314 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs181999180 | chr11:120659324-120659325 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs540704953 | chr11:120659360-120659361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs559944983 | chr11:120659442-120659443 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs186537591 | chr11:120659456-120659457 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs3133861 | chr11:120659485-120659486 | Bivalent Enhancer Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs141531724 | chr11:120659537-120659538 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs531195154 | chr11:120659539-120659540 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs370172621 | chr11:120659566-120659567 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs374311140 | chr11:120659581-120659582 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs114668181 | chr11:120659582-120659583 | Bivalent Enhancer Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs575109233 | chr11:120659638-120659639 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs546767286 | chr11:120659639-120659640 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs373137077 | chr11:120659707-120659708 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs192487918 | chr11:120659784-120659785 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs77427403 | chr11:120659791-120659792 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs557903684 | chr11:120659863-120659864 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs368842913 | chr11:120659872-120659873 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs371375339 | chr11:120659881-120659882 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs147073839 | chr11:120659882-120659883 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs183839632 | chr11:120659935-120659936 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs540768901 | chr11:120659960-120659961 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs558443075 | chr11:120659995-120659996 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs138181356 | chr11:120660004-120660005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs374310143 | chr11:120660013-120660014 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs577621104 | chr11:120660066-120660067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs545288344 | chr11:120660068-120660069 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs563891790 | chr11:120660100-120660101 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs572441134 | chr11:120660101-120660102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs185460352 | chr11:120660169-120660170 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs543339154 | chr11:120660198-120660199 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs561305159 | chr11:120660201-120660202 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs546069769 | chr11:120660268-120660269 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs528501857 | chr11:120660291-120660292 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs546924108 | chr11:120660304-120660305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs149193635 | chr11:120660307-120660308 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs564388747 | chr11:120660308-120660309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs375714091 | chr11:120660314-120660315 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs532606646 | chr11:120660320-120660321 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:107)
| 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 |
| Breast cancer | 21509527 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:120655200-120662800 | Weak transcription | Right Atrium | heart |
| 2 | chr11:120659400-120659600 | Bivalent Enhancer | Fetal Brain Male | brain |
| 3 | chr11:120659600-120659800 | Enhancers | Fetal Brain Male | brain |
| 4 | chr11:120659800-120660000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 5 | chr11:120662600-120663600 | Bivalent Enhancer | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 6 | chr11:120662800-120663000 | Bivalent Enhancer | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 7 | chr11:120662800-120663000 | Flanking Bivalent TSS/Enh | H9 Cell Line | embryonic stem cell |
| 8 | chr11:120662800-120663000 | Enhancers | Gastric | stomach |
| 9 | chr11:120662800-120663200 | Bivalent Enhancer | HUES6 Cell Line | embryonic stem cell |
| 10 | chr11:120662800-120663200 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 11 | chr11:120662800-120663200 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 12 | chr11:120662800-120663200 | Bivalent Enhancer | Rectal Mucosa Donor 31 | rectum |
| 13 | chr11:120662800-120663200 | ZNF genes & repeats | Right Atrium | heart |
| 14 | chr11:120662800-120663600 | Bivalent Enhancer | Primary Natural Killer cells fromperipheralblood | blood |
| 15 | chr11:120662800-120664000 | Enhancers | Duodenum Mucosa | Duodenum |
| 16 | chr11:120663000-120663200 | Bivalent Enhancer | H9 Cell Line | embryonic stem cell |
| 17 | chr11:120663000-120663200 | Bivalent Enhancer | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 18 | chr11:120663000-120664200 | Weak transcription | Gastric | stomach |
| 19 | chr11:120663200-120663400 | Enhancers | H9 Cell Line | embryonic stem cell |
| 20 | chr11:120663200-120663600 | Enhancers | Stomach Mucosa | stomach |
| 21 | chr11:120663200-120665800 | Weak transcription | Right Atrium | heart |
| 22 | chr11:120663600-120665200 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
| 23 | chr11:120664000-120664200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 24 | chr11:120664000-120664200 | Bivalent Enhancer | Fetal Muscle Trunk | muscle |
| 25 | chr11:120664200-120664400 | Enhancers | Gastric | stomach |
| 26 | chr11:120664200-120667800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 27 | chr11:120665200-120666400 | Flanking Active TSS | Primary Natural Killer cells fromperipheralblood | blood |
