Variant report
| Variant | nsv1029642 |
|---|---|
| Chromosome Location | chr9:10677632-10694331 |
| 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 | chr9:10656522..10658673-chr9:10675612..10678102,2 | 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 | rs562816122 | chr9:10678430-10678431 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs199809529 | chr9:10678473-10678474 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs4992818 | chr9:10678500-10678501 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs4992817 | chr9:10678556-10678557 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 5 | rs568090323 | chr9:10678559-10678560 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs150051309 | chr9:10678560-10678561 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs147310580 | chr9:10678569-10678570 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs183974047 | chr9:10678585-10678586 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs4543596 | chr9:10678613-10678614 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs527475964 | chr9:10678620-10678621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs547904831 | chr9:10678631-10678632 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs570835693 | chr9:10678635-10678636 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs533387000 | chr9:10678639-10678640 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs145000939 | chr9:10678692-10678693 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs3893294 | chr9:10678714-10678715 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs536111115 | chr9:10678732-10678733 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs576467522 | chr9:10678735-10678736 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs549686803 | chr9:10678744-10678745 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs566309570 | chr9:10678796-10678797 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs534881172 | chr9:10678800-10678801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs10756095 | chr9:10678836-10678837 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs187792698 | chr9:10678861-10678862 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs144908973 | chr9:10678886-10678887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs149108441 | chr9:10678896-10678897 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs192927203 | chr9:10678900-10678901 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs541763209 | chr9:10678915-10678916 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs561633748 | chr9:10678963-10678964 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs571939187 | chr9:10678965-10678966 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs73642052 | chr9:10678997-10678998 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs568898825 | chr9:10685616-10685617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs7027157 | chr9:10685618-10685619 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs372243950 | chr9:10685661-10685662 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs111404623 | chr9:10685669-10685670 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs182894608 | chr9:10685676-10685677 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs574995140 | chr9:10685686-10685687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs114827192 | chr9:10685696-10685697 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs73404104 | chr9:10685697-10685698 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs187574892 | chr9:10685709-10685710 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs62540777 | chr9:10685715-10685716 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs377057631 | chr9:10685716-10685717 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs545116487 | chr9:10685720-10685721 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs368390133 | chr9:10685723-10685724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs530496605 | chr9:10685751-10685752 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs73404105 | chr9:10685762-10685763 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 45 | rs79928859 | chr9:10685778-10685779 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs529920357 | chr9:10685826-10685827 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs546429917 | chr9:10685836-10685837 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs560220936 | chr9:10685838-10685839 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs568541128 | chr9:10685856-10685857 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs532507811 | chr9:10685942-10685943 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:102)
| Disease | PMID | Source |
|---|---|---|
| abnormal development | 18461090 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Honadal dysgenesis | 21048976 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Lung cancer | 16740712 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Breast cancer | 16272173 | 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 |
| 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 |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| microdeletion syndrome | 16199537 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Cancer | 20164919 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Lung cancer | 18438408 | CNVD |
| XY gonadal dysgenesis | 20685758 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Oral cancer | 21386901 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Esophageal adenocarcinoma | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Renal cell carcinoma | 21668985 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Autism | 22495311 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma | 19074898 | CNVD |
| Malignant melanoma | 19074898 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Cancer | 20164920 | CNVD |
| Developmental delay | 21147756 | CNVD |
| small cell lung cancer | 21764851 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Glioma | 17123091 | CNVD |
| Lung cancer | 16773561 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Esophageal squamous carcinoma | 18405350 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Mental retardation | 17847001 | CNVD |
| Cutaneous squamous cell carcinomas | 17420988 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pilocytic astrocytoma | 18670637 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Melanoma | 22183965 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:10678400-10679000 | Enhancers | NH-A | brain |
| 2 | chr9:10685600-10686400 | Enhancers | Placenta Amnion | Placenta Amnion |
| 3 | chr9:10686600-10687800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 4 | chr9:10687200-10688000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 5 | chr9:10687400-10688000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
| 6 | chr9:10687400-10688000 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
