Variant report
| Variant | esv3401391 |
|---|---|
| Chromosome Location | chr15:34404272-34404569 |
| 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 | chr15:34402115..34404646-chr15:34407237..34411184,3 | K562 | blood: | |
| 2 | chr15:34402294..34404744-chr15:34506028..34509076,3 | MCF-7 | breast: | |
| 3 | chr15:34402131..34404554-chr15:34408275..34409911,2 | K562 | blood: | |
| 4 | chr15:34402914..34405409-chr15:34502231..34505059,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000134152 | chromatin interactions |
Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs369817349 | chr15:34404328-34404329 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs386782869 | chr15:34404329-34404330 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs74877815 | chr15:34404330-34404331 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs376979862 | chr15:34404331-34404332 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs377622911 | chr15:34404332-34404333 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs201771004 | chr15:34404345-34404346 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs376625763 | chr15:34404346-34404347 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs191540722 | chr15:34404395-34404396 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs12592403 | chr15:34404433-34404434 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs574872257 | chr15:34404434-34404435 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs537101161 | chr15:34404443-34404444 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs184072392 | chr15:34404455-34404456 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs573836608 | chr15:34404475-34404476 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs145614212 | chr15:34404497-34404498 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs553577216 | chr15:34404498-34404499 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:67)
| 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 |
| Hodgkin''s lymphoma | 18641027 | 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 |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Oral squamous cell carcinoma | 17134496 | CNVD |
| Breast cancer | 17133270 | 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 |
| Breast cancer | 21858162 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Abnormal corpus callosum | 21572526 | CNVD |
| Gastrointestinal stromal cancer | 16982739 | CNVD |
| Autism | 19204725 | CNVD |
| Schizophrenia | 19204725 | CNVD |
| Schizophrenia | 19149910 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Legius syndrome | 19443465 | CNVD |
| Holoprosencephaly | 21359414 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Prader-willi syndrome | 21504564 | CNVD |
| Cancer | 17440070 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| Acute lymphoblastic leukemia | 18458336 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:34395000-34407200 | Weak transcription | Fetal Muscle Trunk | muscle |
| 2 | chr15:34395400-34408400 | Weak transcription | HSMMtube | muscle |
| 3 | chr15:34395600-34408200 | Weak transcription | Fetal Muscle Leg | muscle |
| 4 | chr15:34396000-34407200 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
