Variant report
| Variant | esv2762790 |
|---|---|
| Chromosome Location | chr9:10131581-10135016 |
| 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 | rs10958907 | chr9:10131581-10131582 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 2 | rs549676027 | chr9:10131656-10131657 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs182193652 | chr9:10131666-10131667 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs147740119 | chr9:10131667-10131668 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs76783394 | chr9:10131700-10131701 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs199959584 | chr9:10131705-10131706 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs376772693 | chr9:10131710-10131711 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs142464725 | chr9:10131771-10131772 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs571782268 | chr9:10131780-10131781 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs540846241 | chr9:10131788-10131789 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs531662025 | chr9:10131790-10131791 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs548745657 | chr9:10131845-10131846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs564342773 | chr9:10131858-10131859 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs373869626 | chr9:10131859-10131860 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs371769573 | chr9:10131888-10131889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs532960906 | chr9:10131906-10131907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs7037950 | chr9:10131925-10131926 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 18 | rs563427522 | chr9:10131927-10131928 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs369464900 | chr9:10131958-10131959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs12345015 | chr9:10131974-10131975 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 21 | rs7023442 | chr9:10131983-10131984 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 22 | rs574880746 | chr9:10131995-10131996 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs535086422 | chr9:10131999-10132000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs551567417 | chr9:10132004-10132005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs373606397 | chr9:10132034-10132035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs188009710 | chr9:10132061-10132062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs192378340 | chr9:10132137-10132138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs115036012 | chr9:10132148-10132149 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs535970881 | chr9:10132157-10132158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs78560298 | chr9:10132166-10132167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs554241344 | chr9:10132176-10132177 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs114182359 | chr9:10132180-10132181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs184776592 | chr9:10132218-10132219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs554909382 | chr9:10132226-10132227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs571695796 | chr9:10132230-10132231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs189581833 | chr9:10132254-10132255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs191917934 | chr9:10132256-10132257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs184466816 | chr9:10132318-10132319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs543213042 | chr9:10132319-10132320 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs140550802 | chr9:10132334-10132335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs113131187 | chr9:10132351-10132352 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs543058094 | chr9:10132357-10132358 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs559818912 | chr9:10132394-10132395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs528472933 | chr9:10132395-10132396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs577962624 | chr9:10132410-10132411 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs370413518 | chr9:10132415-10132416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs551895588 | chr9:10132424-10132425 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs10958908 | chr9:10132437-10132438 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 49 | rs540138708 | chr9:10132447-10132448 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs550869106 | chr9:10132449-10132450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:113)
| 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:10123200-10135600 | Weak transcription | Fetal Heart | heart |
| 2 | chr9:10130200-10131600 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 3 | chr9:10130400-10131800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 4 | chr9:10134000-10134400 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
| 5 | chr9:10134000-10134600 | Enhancers | H1 Cell Line | embryonic stem cell |
| 6 | chr9:10134000-10134600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
| 7 | chr9:10134200-10134600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
| 8 | chr9:10134200-10134600 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 9 | chr9:10134200-10134600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
| 10 | chr9:10134200-10134600 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
| 11 | chr9:10134200-10134600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
