Variant report
| Variant | esv3389055 |
|---|---|
| Chromosome Location | chrX:6479562-6480036 |
| 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:14 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs187144949 | chrX:6479566-6479567 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs190743684 | chrX:6479610-6479611 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs113037289 | chrX:6479630-6479631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs111703199 | chrX:6479643-6479644 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs113097004 | chrX:6479656-6479657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs112095624 | chrX:6479672-6479673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs111779497 | chrX:6479673-6479674 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs12012194 | chrX:6479823-6479824 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs12008242 | chrX:6479843-6479844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12012468 | chrX:6479850-6479851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs12009173 | chrX:6479852-6479853 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs12008268 | chrX:6479866-6479867 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs188585327 | chrX:6479876-6479877 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs112599090 | chrX:6479930-6479931 | Weak transcription | n/a | n/a | Overlapped CNVs | 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:6479000-6486000 | Weak transcription | H9 Cell Line | embryonic stem cell |
