Variant report
Variant | esv3323306 |
---|---|
Chromosome Location | chr13:65636776-65639524 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs550575847 | chr13:65638017-65638018 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs201048632 | chr13:65638022-65638023 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs58784087 | chr13:65638023-65638024 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs80317155 | chr13:65638024-65638025 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs149066642 | chr13:65638046-65638047 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs539087093 | chr13:65638110-65638111 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs559101644 | chr13:65638120-65638121 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs112431895 | chr13:65638207-65638208 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs200483258 | chr13:65638208-65638209 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs201564446 | chr13:65638209-65638210 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs201960350 | chr13:65638210-65638211 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs575108168 | chr13:65638271-65638272 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs542204238 | chr13:65638274-65638275 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs372713810 | chr13:65638303-65638304 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs528087569 | chr13:65638326-65638327 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs142106172 | chr13:65638358-65638359 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs559531951 | chr13:65638377-65638378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs73504687 | chr13:65638392-65638393 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs369069131 | chr13:65638419-65638420 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs550786367 | chr13:65638476-65638477 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs76123968 | chr13:65638535-65638536 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs201836283 | chr13:65638565-65638566 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs530064323 | chr13:65638567-65638568 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs546921527 | chr13:65638593-65638594 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs566830384 | chr13:65638638-65638639 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs200446088 | chr13:65638657-65638658 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs567034779 | chr13:65638730-65638731 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs539049743 | chr13:65638774-65638775 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs151160061 | chr13:65638816-65638817 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs375909716 | chr13:65638841-65638842 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs531500963 | chr13:65638861-65638862 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs181821961 | chr13:65638864-65638865 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs534785937 | chr13:65638865-65638866 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs185218803 | chr13:65638914-65638915 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs555183070 | chr13:65639073-65639074 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs575026804 | chr13:65639157-65639158 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs386468804 | chr13:65639166-65639167 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs539813485 | chr13:65639169-65639170 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs374891939 | chr13:65639227-65639228 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs75623529 | chr13:65639242-65639243 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs572480688 | chr13:65639245-65639246 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs75015798 | chr13:65639258-65639259 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs145190290 | chr13:65639274-65639275 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs564817787 | chr13:65639277-65639278 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs575339222 | chr13:65639286-65639287 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs544073646 | chr13:65639288-65639289 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs552894747 | chr13:65639314-65639315 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs201144357 | chr13:65639356-65639357 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs4372585 | chr13:65639357-65639358 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
50 | rs546880630 | chr13:65639383-65639384 | Enhancers Weak transcription | n/a | n/a | 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 |
Breast cancer | 17133270 | CNVD |
Myoepithelioma | 18604193 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Prostate cancer | 16573809 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Paraganglioma | 21461997 | CNVD |
Pheochromocytoma | 21461997 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Prostate cancer | 17245344 | CNVD |
Prostate cancer | 18632612 | CNVD |
Colorectal cancer | 21586687 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Developmental delay | 21147756 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Merkel cell carcinoma | 19020549 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Breast cancer | 21858162 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Gastric cancer | 17908304 | CNVD |
Glioblastoma multiforme | 21750150 | CNVD |
Breast cancer | 17603634 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 17393978 | CNVD |
Splenic marginal zone lymphoma | 18492102 | CNVD |
Liposarcoma | 21253554 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
abnormal development | 18461090 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:65638000-65638600 | Enhancers | A549 | lung |
2 | chr13:65638000-65639600 | Enhancers | Fetal Heart | heart |
3 | chr13:65638600-65639600 | Weak transcription | A549 | lung |