Variant report
| Variant | nsv969775 |
|---|---|
| Chromosome Location | chr9:10235684-10242207 |
| 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 |
| No data |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs185829426 | chr9:10235687-10235688 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs529773732 | chr9:10235730-10235731 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs144206970 | chr9:10235757-10235758 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs559790544 | chr9:10235764-10235765 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs532193284 | chr9:10235780-10235781 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs369721242 | chr9:10235793-10235794 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs552048677 | chr9:10235860-10235861 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs562844714 | chr9:10235870-10235871 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs531495166 | chr9:10235896-10235897 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs374139224 | chr9:10235902-10235903 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs568441743 | chr9:10235975-10235976 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs189809212 | chr9:10236050-10236051 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs10738155 | chr9:10236063-10236064 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs540027571 | chr9:10236138-10236139 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs556477859 | chr9:10236192-10236193 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs10756010 | chr9:10236246-10236247 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 17 | rs10958968 | chr9:10236249-10236250 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs554173649 | chr9:10236259-10236260 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs560780999 | chr9:10236281-10236282 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs574118675 | chr9:10236369-10236370 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs16925582 | chr9:10236372-10236373 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs559827127 | chr9:10236400-10236401 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs542724275 | chr9:10236414-10236415 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs2498604 | chr9:10236440-10236441 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 25 | rs148727907 | chr9:10236442-10236443 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs144920869 | chr9:10236483-10236484 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs531659707 | chr9:10236503-10236504 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs529808370 | chr9:10236504-10236505 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs147964780 | chr9:10236598-10236599 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs527694909 | chr9:10236614-10236615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs10958969 | chr9:10236629-10236630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs571004223 | chr9:10236696-10236697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs181040793 | chr9:10236751-10236752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs185510648 | chr9:10236767-10236768 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs570129344 | chr9:10236772-10236773 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs536021932 | chr9:10236822-10236823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs555657933 | chr9:10236830-10236831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs201231262 | chr9:10236834-10236835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs533550293 | chr9:10236849-10236850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs16925583 | chr9:10236864-10236865 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 41 | rs576902721 | chr9:10236872-10236873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs545557166 | chr9:10236888-10236889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs570717829 | chr9:10236889-10236890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs117706440 | chr9:10236917-10236918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs551181378 | chr9:10236919-10236920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs548906916 | chr9:10236932-10236933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs542003536 | chr9:10236935-10236936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs76359860 | chr9:10236952-10236953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs190468194 | chr9:10236990-10236991 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs541479321 | chr9:10237010-10237011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:115)
| 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 |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| Cancer | 20164920 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Schizophrenia | 20838587 | CNVD |
| Glioblastoma | 18772890 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Autism | 20858261 | CNVD |
| Epilepsy | 20858261 | CNVD |
| Mental retardation | 20858261 | 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 |
| Lung adenocarcinoma | 17982442 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Melanoma | 22183965 | CNVD |
| Attention deficit hyperactivity disorder | 19546859 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:10233200-10238000 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 2 | chr9:10233400-10239400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 3 | chr9:10235200-10236400 | Enhancers | Fetal Brain Male | brain |
| 4 | chr9:10235400-10236600 | Enhancers | Fetal Brain Female | brain |
| 5 | chr9:10237600-10237800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 6 | chr9:10237800-10242400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 7 | chr9:10238000-10238200 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 8 | chr9:10239400-10239800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 9 | chr9:10240200-10240400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 10 | chr9:10240200-10240600 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
| 11 | chr9:10242000-10242200 | Enhancers | Fetal Heart | heart |
| 12 | chr9:10242200-10244200 | Weak transcription | Fetal Heart | heart |
