Variant report
| Variant | esv3384553 |
|---|---|
| Chromosome Location | chrX:29408148-29408319 |
| 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 |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs187240531 | chrX:29408209-29408210 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs35299154 | chrX:29408276-29408277 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:50)
| Disease | PMID | Source |
|---|---|---|
| abnormal development | 18461090 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Cancer | 16751803 | CNVD |
| Intellectual disability | 23615299 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Burkitt''s lymphoma | 20823134 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Schizophrenia | 23904455 | CNVD |
| Olfactory neuroblastoma | 18408657 | CNVD |
| infertile | 22614455 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Cancer | 20581869 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Cancer | 20164919 | CNVD |
| Premature ovarian failure | 20952765 | CNVD |
| Ovarian cancer | 19835627 | CNVD |
| Cerebellar hypoplasia | 21569638 | CNVD |
| X-linked lissencephaly | 21569638 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Developmental delay | 21147756 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Mental retardation | 17406619 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| Mental retardation | 20613765 | CNVD |
| Disorders of sex development | 22290220 | CNVD |
| Congenital abnormalities | 21549014 | CNVD |
| Developmental delay | 21549014 | CNVD |
| Mental retardation | 21549014 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| Duchenne-like muscular dystrophy | 22470819 | CNVD |
| Muscular dystrophy | 22470819 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chrX:29408200-29408600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
