Variant report
Variant | esv3335745 |
---|---|
Chromosome Location | chr9:10025963-10026529 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs138539653 | chr9:10025973-10025974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs727756 | chr9:10025975-10025976 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs548812151 | chr9:10025998-10025999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs568320486 | chr9:10026022-10026023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs144141450 | chr9:10026029-10026030 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs147295491 | chr9:10026048-10026049 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs386732504 | chr9:10026052-10026053 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs532010278 | chr9:10026060-10026061 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs566100685 | chr9:10026061-10026062 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs538653726 | chr9:10026062-10026063 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs140889805 | chr9:10026074-10026075 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs114980247 | chr9:10026087-10026088 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs111744129 | chr9:10026108-10026109 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs569019680 | chr9:10026111-10026112 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs554756105 | chr9:10026114-10026115 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs531657186 | chr9:10026126-10026127 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs143226939 | chr9:10026148-10026149 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs77310584 | chr9:10026169-10026170 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs80054465 | chr9:10026194-10026195 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs546222209 | chr9:10026195-10026196 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs111258772 | chr9:10026213-10026214 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs531786079 | chr9:10026229-10026230 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs542131365 | chr9:10026231-10026232 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs190223489 | chr9:10026283-10026284 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs568278395 | chr9:10026294-10026295 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs538211947 | chr9:10026304-10026305 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs367621874 | chr9:10026320-10026321 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs528826803 | chr9:10026332-10026333 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs555302250 | chr9:10026338-10026339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs568240925 | chr9:10026345-10026346 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs527898853 | chr9:10026370-10026371 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs182809698 | chr9:10026389-10026390 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs150733617 | chr9:10026431-10026432 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs534014316 | chr9:10026446-10026447 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs553183229 | chr9:10026454-10026455 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs567000789 | chr9:10026469-10026470 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr9:10025600-10027400 | Enhancers | Dnd41 | blood |
2 | chr9:10025800-10027600 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
3 | chr9:10026000-10026400 | Enhancers | Brain Anterior Caudate | brain |
4 | chr9:10026200-10027000 | Enhancers | Primary hematopoietic stem cells | blood |
5 | chr9:10026200-10027000 | Enhancers | Brain Cingulate Gyrus | brain |
6 | chr9:10026200-10027000 | Enhancers | Brain Substantia Nigra | brain |
7 | chr9:10026200-10027200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
8 | chr9:10026400-10027000 | Enhancers | Primary neutrophils fromperipheralblood | blood |