Variant report
| Variant | esv32830 |
|---|---|
| Chromosome Location | chrX:6472097-6476202 |
| 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:18 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs372113359 | chrX:6475046-6475047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs191549604 | chrX:6475131-6475132 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs112093599 | chrX:6475142-6475143 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs142245777 | chrX:6475284-6475285 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs187788622 | chrX:6475432-6475433 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs111226258 | chrX:6475453-6475454 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs369488757 | chrX:6475468-6475469 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs112606519 | chrX:6475517-6475518 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs5948736 | chrX:6475629-6475630 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200769113 | chrX:6475659-6475660 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs182084037 | chrX:6475662-6475663 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs186720829 | chrX:6475679-6475680 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113016559 | chrX:6475820-6475821 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs191390599 | chrX:6475825-6475826 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs7055580 | chrX:6475897-6475898 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs11298425 | chrX:6475909-6475910 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs200819088 | chrX:6476180-6476181 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs4439307 | chrX:6476202-6476203 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:60)
| Disease | PMID | Source |
|---|---|---|
| turner syndrome | 20877625 | CNVD |
| Kallmann Syndrome 1 | 22470819 | CNVD |
| short stature | 22470819 | CNVD |
| Oro-facial digital syndrome | 19023858 | CNVD |
| Oro-facial digital syndrome | 21572526 | CNVD |
| Aicardi syndrome | 21572526 | CNVD |
| Vermis hypoplasia | 21569638 | CNVD |
| Opitz syndrome | 21569638 | CNVD |
| Opitz syndrome | 21572526 | CNVD |
| Oro-facial digital syndrome | 21569638 | CNVD |
| Abnormal corpus callosum | 21572526 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Seminomas | 18059402 | CNVD |
| abnormal development | 18461090 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 19960244 | 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 |
| small cell lung cancer | 20016488 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Mental retardation | 17406619 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Autism | 22495311 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Cancer | 20581869 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Breast cancer | 21785460 | CNVD |
| XY gonadal dysgenesis | 20685758 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Mental retardation | 20486941 | CNVD |
| Abnormal phenotypes | 21355048 | CNVD |
| Congenital abnormalities | 21549014 | CNVD |
| Developmental delay | 21549014 | CNVD |
| Mental retardation | 21549014 | CNVD |
| Microphthalmia | 21572526 | CNVD |
| Steroid sulfatase deficiency | 21549014 | CNVD |
| Attention deficit hyperactivity disorder | 21355048 | CNVD |
| Ichthyosis | 21355048 | CNVD |
| Mental retardation | 21355048 | CNVD |
| Immune disease | 21076436 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chrX:6475000-6476600 | Enhancers | Liver | Liver |
