Variant report
| Variant | esv3366255 |
|---|---|
| Chromosome Location | chr12:85936881-85937452 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:85930199..85932678-chr12:85934950..85937006,2 | K562 | blood: |
| 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 | rs140004355 | chr12:85936961-85936962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs188031724 | chr12:85936988-85936989 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs572250805 | chr12:85937027-85937028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs370677507 | chr12:85937038-85937039 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs12318024 | chr12:85937071-85937072 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 6 | rs144306257 | chr12:85937074-85937075 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs74112223 | chr12:85937090-85937091 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 8 | rs149998128 | chr12:85937098-85937099 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs372002028 | chr12:85937114-85937115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs187952711 | chr12:85937173-85937174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs58492681 | chr12:85937199-85937200 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 12 | rs541162381 | chr12:85937218-85937219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs560520736 | chr12:85937282-85937283 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs77175548 | chr12:85937342-85937343 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs377162488 | chr12:85937352-85937353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs527842009 | chr12:85937391-85937392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs370385026 | chr12:85937433-85937434 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs7295742 | chr12:85937437-85937438 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:65)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Malaria | 21533027 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Chronic lymphocytic leukemia | 21670202 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Autism | 22495311 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Breast cancer | 21949216 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Cancer | 21637783 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 17899364 | CNVD |
| Cancer | 16751803 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Melanoma | 18172304 | CNVD |
| Glioblastoma multiforme | 21390271 | CNVD |
| Cancer | 20164919 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Breast cancer | 22032731 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Bipolar disorder | 19114987 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:85934400-85938600 | Weak transcription | Fetal Intestine Large | intestine |
| 2 | chr12:85935400-85938200 | Weak transcription | Fetal Intestine Small | intestine |
