Variant report
Variant | esv3359350 |
---|---|
Chromosome Location | chr13:51910109-51910437 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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Variant related genes | Relation type |
---|---|
ENSG00000253309 | chromatin interactions |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs147496172 | chr13:51910166-51910167 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs571944972 | chr13:51910177-51910178 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs576222629 | chr13:51910231-51910232 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs139864772 | chr13:51910232-51910233 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs572902339 | chr13:51910303-51910304 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs116410678 | chr13:51910335-51910336 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs544825044 | chr13:51910344-51910345 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs58501973 | chr13:51910352-51910353 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs145372612 | chr13:51910377-51910378 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs147250727 | chr13:51910383-51910384 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs4941697 | chr13:51910385-51910386 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs60636695 | chr13:51910416-51910417 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs9596501 | chr13:51910421-51910422 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs369558227 | chr13:51910432-51910433 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Prostate cancer | 16705090 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Autism | 22495311 | CNVD |
Chordoma | 21602918 | CNVD |
Bladder cancer | 21949216 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Cancer | 21637783 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 21518781 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Intracranial aneurysm | 19064780 | CNVD |
Breast cancer | 19287154 | CNVD |
Acute myeloid leukemia | 18379011 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Ependymoma | 16718352 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Breast cancer | 16608533 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17133270 | CNVD |
Myoepithelioma | 18604193 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Trisomy | 24170809 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Prostate cancer | 16573809 | CNVD |
Prostate cancer | 18632612 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Prostate cancer | 19242612 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Prostate cancer | 17245344 | CNVD |
Colorectal cancer | 21586687 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Developmental delay | 21147756 | CNVD |
Melanoma | 18172304 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Chronic lymphocytic leukemia | 21795749 | CNVD |
Chronic lymphocytic leukemia | 17805327 | CNVD |
Mental retardation | 17502991 | CNVD |
Retinoblastoma | 17502991 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Liposarcoma | 21253554 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Cervical cancer | 21062161 | CNVD |
microdeletion syndrome | 19284877 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Chronic lymphocytic leukemia | 17053054 | CNVD |
Multiple myeloma | 19135901 | CNVD |
Autism | 18414403 | CNVD |
Neurocytoma | 17123091 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Prostate cancer | 16461572 | CNVD |
Merkel cell carcinoma | 19020549 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Glioblastoma multiforme | 19435819 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Breast cancer | 21858162 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Acute myeloid leukemia | 17237825 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Hereditary prostate cancer | 22028916 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
Chronic lymphocytic leukemia | 21049055 | CNVD |
Prostate cancer | 17217626 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16272173 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21990379 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20467480 | CNVD |
Gastric cancer | 17908304 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:51867600-51910800 | Weak transcription | Pancreas | Pancrea |
2 | chr13:51900200-51914000 | Weak transcription | H9 Cell Line | embryonic stem cell |
3 | chr13:51900400-51938200 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
4 | chr13:51900800-51913400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr13:51903400-51913600 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
6 | chr13:51905000-51913800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
7 | chr13:51905400-51915200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
8 | chr13:51906000-51917200 | Weak transcription | HSMM | muscle |
9 | chr13:51906000-51944400 | Weak transcription | Spleen | Spleen |
10 | chr13:51906200-51935400 | Weak transcription | HSMMtube | muscle |
11 | chr13:51906800-51917200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
12 | chr13:51907800-51933200 | Weak transcription | Primary T cells from cord blood | blood |
13 | chr13:51909800-51917200 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
14 | chr13:51910000-51913400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |