Variant report
| Variant | esv3381532 |
|---|---|
| Chromosome Location | chr15:42295280-42295515 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr15:42295229..42297667-chr15:42310261..42312027,2 | K562 | blood: | |
| 2 | chr15:42285666..42287289-chr15:42294090..42296244,2 | K562 | blood: | |
| 3 | chr15:42294369..42297301-chr15:42300783..42303628,2 | K562 | blood: | |
| 4 | chr15:42294519..42296729-chr15:42308875..42311761,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000188089 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs376616091 | chr15:42295302-42295303 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs1704360 | chr15:42295319-42295320 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs182997625 | chr15:42295331-42295332 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs568678603 | chr15:42295428-42295429 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs77418900 | chr15:42295455-42295456 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs554375015 | chr15:42295488-42295489 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs577536799 | chr15:42295495-42295496 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:68)
| Disease | PMID | Source |
|---|---|---|
| HDAC8 | 0 | CNVD |
| NIPBL | 0 | CNVD |
| RAD21 | 0 | CNVD |
| SMC1A | 0 | CNVD |
| SMC3 | 0 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Schizophrenia | 19415332 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Angelman syndrome | 16183798 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| cataract | 16735990 | CNVD |
| Cancer | 21637783 | CNVD |
| Colorectal cancer | 20709793 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| spastic paraplegia with thinning of corpus callosum | 19105190 | CNVD |
| Schizophrenia | 21324950 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Disease | 21824424 | CNVD |
| Melanoma | 18172304 | CNVD |
| Colorectal cancer | 16774939 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Neuroblastoma | 19435921 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
| Multiple myeloma | 17077331 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Gastrointestinal stromal cancer | 20470368 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| Multiple myeloma | 20724749 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Cancer | 20164920 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Cancer | 21129771 | CNVD |
| Papillary thyroid carcinoma | 22161024 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 21045282 | CNVD |
| Breast cancer | 22032731 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Gastrointestinal stromal cancer | 20877625 | CNVD |
| Multiple myeloma | 16616336 | CNVD |
| Renal cell carcinoma | 18765545 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Follicular lymphoma | 17170743 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Maculopathy | 20981449 | CNVD |
| Gastric adenocarcinoma | 19115996 | CNVD |
| early-passage human iPS cells | 21368824 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:42273000-42301800 | Weak transcription | Fetal Intestine Small | intestine |
| 2 | chr15:42273800-42301800 | Weak transcription | Esophagus | oesophagus |
| 3 | chr15:42288200-42303400 | Weak transcription | Pancreas | Pancrea |
| 4 | chr15:42289400-42297400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 5 | chr15:42290400-42310400 | Weak transcription | Right Atrium | heart |
| 6 | chr15:42294600-42295600 | Enhancers | Skeletal Muscle Male | skeletal muscle |
| 7 | chr15:42295000-42302600 | Weak transcription | Right Ventricle | heart |
