Variant report
| Variant | nsv528125 |
|---|---|
| Chromosome Location | chrX:33694413-33729402 |
| 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:19 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs5972939 | chrX:33712422-33712423 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs192512029 | chrX:33712522-33712523 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs557317146 | chrX:33712646-33712647 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs75787137 | chrX:33712674-33712675 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs146177369 | chrX:33712764-33712765 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs375472836 | chrX:33712833-33712834 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs5972940 | chrX:33712890-33712891 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs35143925 | chrX:33712978-33712979 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs143871143 | chrX:33713038-33713039 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs12847215 | chrX:33713051-33713052 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs150878346 | chrX:33713092-33713093 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs185529435 | chrX:33713232-33713233 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs187653660 | chrX:33713284-33713285 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs7471646 | chrX:33713407-33713408 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs371598230 | chrX:33713472-33713473 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs545522315 | chrX:33713476-33713477 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs5928340 | chrX:33713570-33713571 | Enhancers | n/a | n/a | Overlapped CNVs | mRNA abundance |
| 18 | rs111236578 | chrX:33713656-33713657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs184909429 | chrX:33713708-33713709 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:49)
| 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 |
| Mental retardation | 17406619 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Cancer | 20164920 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| Ornithine transcarbamylase deficiency | 21467225 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Chronic granulomatous disease | 22383943 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 21611746 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chrX:33712400-33713400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 2 | chrX:33712400-33713800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
| 3 | chrX:33712800-33713400 | Enhancers | HUES64 Cell Line | embryonic stem cell |
