Variant report
| Variant | esv1002093 |
|---|---|
| Chromosome Location | chr2:127724864-127725324 |
| 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 | rs572441712 | chr2:127724865-127724866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs544585835 | chr2:127724868-127724869 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs76372551 | chr2:127724888-127724889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs190307389 | chr2:127724911-127724912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs576899661 | chr2:127724918-127724919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs34609794 | chr2:127724977-127724978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs141183870 | chr2:127725064-127725065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs386650178 | chr2:127725085-127725086 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs4663079 | chr2:127725092-127725093 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs546807585 | chr2:127725141-127725142 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs542773589 | chr2:127725163-127725164 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs566018210 | chr2:127725165-127725166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs4663080 | chr2:127725180-127725181 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs551789995 | chr2:127725187-127725188 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs4663081 | chr2:127725227-127725228 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 16 | rs146957107 | chr2:127725237-127725238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs557710024 | chr2:127725258-127725259 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs4663082 | chr2:127725306-127725307 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:55)
| Disease | PMID | Source |
|---|---|---|
| Medulloblastoma | 21979893 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Cancer | 20164919 | CNVD |
| Autism | 22495311 | CNVD |
| Autism | 18522746 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Mowat-Wilson syndrome | 21572526 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| epilepsy | 18472482 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| myoclonus epilepsy | 18472482 | CNVD |
| Benign familial neonatal-infantile seizures | 18472482 | CNVD |
| Diffuse large b-cell lymphoma | 18287131 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Mental retardation | 17621639 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Neurocytoma | 17123091 | CNVD |
| Developmental delay | 21147756 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:127722000-127727200 | Weak transcription | Fetal Muscle Trunk | muscle |
| 2 | chr2:127724600-127726600 | Weak transcription | Fetal Muscle Leg | muscle |
