Variant report
| Variant | esv3363511 |
|---|---|
| Chromosome Location | chr16:46507748-46508226 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-SHCBP1-3 | chr16:46508034-46508241 | NONHSAT142250 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| GJA1 | miRNA target sites |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs531348486 | chr16:46508035-46508036 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 2 | rs549462856 | chr16:46508060-46508061 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 3 | rs567770432 | chr16:46508108-46508109 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 4 | rs530242094 | chr16:46508118-46508119 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 5 | rs548729813 | chr16:46508127-46508128 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 6 | rs567071667 | chr16:46508159-46508160 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 7 | rs148559586 | chr16:46508175-46508176 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 8 | rs550593234 | chr16:46508189-46508190 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
| 9 | rs142946146 | chr16:46508214-46508215 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:56)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Schizophrenia | 22958593 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Autism | 22495311 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Cancer | 20164920 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Breast cancer | 17850661 | CNVD |
| Breast cancer | 16702952 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Prostate cancer | 19242612 | CNVD |
| Cancer | 22429812 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Ewing''s sarcoma | 22429812 | CNVD |
| Melanoma | 18172304 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 20837533 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Multiple myeloma | 21628407 | CNVD |
| Autism | 19955444 | CNVD |
| Schizophrenia | 19955444 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Sudden cardiac death | 19188705 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 20421269 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Attention deficit hyperactivity disorder | 21324949 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
Chromatin state (count:0 , 50 per page) page:
| No data |
