Variant report
Variant | esv2211763 |
---|---|
Chromosome Location | chr2:56492350-56492816 |
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 |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:56492076..56493596-chr6:44214720..44217244,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000096384 | chromatin interactions |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs2216332 | chr2:56492351-56492352 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs75322995 | chr2:56492381-56492382 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs569702845 | chr2:56492394-56492395 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs538255779 | chr2:56492425-56492426 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs558484782 | chr2:56492447-56492448 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs12621959 | chr2:56492455-56492456 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs541330142 | chr2:56492463-56492464 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs554831246 | chr2:56492465-56492466 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs574668852 | chr2:56492482-56492483 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs543615576 | chr2:56492508-56492509 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs376661371 | chr2:56492521-56492522 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs201211729 | chr2:56492575-56492576 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs202069190 | chr2:56492579-56492580 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs200058453 | chr2:56492580-56492581 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs562846919 | chr2:56492649-56492650 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs188781079 | chr2:56492652-56492653 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs545114588 | chr2:56492654-56492655 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs193298843 | chr2:56492758-56492759 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs528009973 | chr2:56492759-56492760 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs547670793 | chr2:56492764-56492765 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Adrenal tumor | 17535989 | CNVD |
Breast cancer | 21264507 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Medulloblastoma | 17522785 | CNVD |
Cancer | 23418310 | CNVD |
Breast cancer | 17603634 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ependymoma | 16718352 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Prostate cancer | 18632612 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Autism | 17483303 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Leukemia | 18628472 | CNVD |
Autism | 22495311 | CNVD |
Autism | 18522746 | CNVD |
Breast cancer | 21785460 | CNVD |
Lung cancer | 18438408 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Neuroblastoma | 21508638 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Breast cancer | 16272173 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Ovarian cancer | 21720365 | CNVD |
abnormal development | 18461090 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 16397240 | CNVD |
Chronic lymphocytic leukemia | 17053054 | CNVD |
Hereditary non-polyposis colorectal cancer | 19566914 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Developmental delay | 21147756 | CNVD |
Mental retardation | 19951919 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Microcephaly | 20799320 | CNVD |
camptodactyly | 20799320 | CNVD |
cognitive delay | 20799320 | CNVD |
prenatal and postnatal growth deficiency | 20799320 | CNVD |
ptosis of eyelids | 20799320 | CNVD |
Maculopathy | 20981449 | CNVD |
2p16.1 microdeletion syndrome | 22283845 | CNVD |
Autism | 22579565 | CNVD |
Autism | 16963482 | CNVD |
Autism | 21750575 | CNVD |
idiopathic intellectual disability | 16963482 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Follicular lymphoma | 17699855 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:56486600-56505000 | Weak transcription | Left Ventricle | heart |
2 | chr2:56487800-56506000 | Weak transcription | Psoas Muscle | Psoas |
3 | chr2:56488000-56493800 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
4 | chr2:56488000-56514000 | Weak transcription | HSMM | muscle |