Variant report
| Variant | esv2079795 |
|---|---|
| Chromosome Location | chr22:32758462-32758465 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:7 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 22:32529813-32538538..22:32750950-32761732 | K562 | blood: | |
| 2 | 22:32284948-32287956..22:32750950-32761732 | K562 | blood: | |
| 3 | 22:32360288-32405313..22:32750950-32761732 | K562 | blood: | |
| 4 | 22:32513817-32522138..22:32750950-32761732 | H1-hESC | embryonic stem cell: | embryo |
| 5 | 22:32750950-32761732..22:33253287-33262063 | Hela-S3 | cervix: | |
| 6 | 22:31936958-31958600..22:32750950-32761732 | Hela-S3 | cervix: | |
| 7 | 22:32665993-32670527..22:32750950-32761732 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000214093 | chromatin interactions |
| ENSG00000234479 | chromatin interactions |
| ENSG00000224050 | chromatin interactions |
| ENSG00000227813 | chromatin interactions |
| ENSG00000239674 | chromatin interactions |
| ENSG00000183531 | chromatin interactions |
| ENSG00000230866 | chromatin interactions |
| ENSG00000232707 | chromatin interactions |
| ENSG00000240647 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs374600030 | chr22:32758462-32758463 | Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
| 2 | rs371965419 | chr22:32758463-32758464 | Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
| 3 | rs367914443 | chr22:32758464-32758465 | Weak transcription | Chromatin interactive region | 9 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Velocardiofacial syndrome | 20111667 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| sporadic solitary meningiomas | 19589153 | CNVD |
| Myofibroblastic sarcoma | 19369631 | CNVD |
| Autism | 22495311 | CNVD |
| Chordoma | 21602918 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Congenital heart defect | 22511896 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Seminomas | 18059402 | CNVD |
| Cancer | 16751803 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Metachromatic leukodystrophy | 18421352 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Gastrointestinal stromal cancer | 19259404 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Gastrointestinal stromal cancer | 17535989 | CNVD |
| Paraganglioma | 17535989 | CNVD |
| Pulmonary chondroma | 17535989 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Melanoma | 18172304 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Pancreatic endocrine tumor | 17639061 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Cancer | 21183584 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Schizophrenia | 19521646 | CNVD |
| Schizophrenia | 18990708 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Autism | 19384346 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| muscular dystrophy type 1D | 21248746 | CNVD |
| Leukoplakia | 24403051 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Deafness | 17160897 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Cancer | 20164919 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr22:32755800-32781600 | Weak transcription | Ovary | ovary |
