Variant report
Variant | esv3434443 |
---|---|
Chromosome Location | chr13:63102901-63104999 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs141369386 | chr13:63102949-63102950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs546107635 | chr13:63102971-63102972 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs365419 | chr13:63102973-63102974 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs188709 | chr13:63102974-63102975 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs575697554 | chr13:63103024-63103025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs377465259 | chr13:63103027-63103028 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs543117775 | chr13:63103051-63103052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs150758781 | chr13:63103252-63103253 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs546772190 | chr13:63103263-63103264 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs547668317 | chr13:63103276-63103277 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs80181345 | chr13:63103325-63103326 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs533136540 | chr13:63103334-63103335 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs551570733 | chr13:63103380-63103381 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs12867188 | chr13:63103426-63103427 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs538293267 | chr13:63103427-63103428 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs113519520 | chr13:63103458-63103459 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs554241486 | chr13:63103472-63103473 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs535525335 | chr13:63103474-63103475 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs554423520 | chr13:63103486-63103487 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs572683659 | chr13:63103492-63103493 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs138033826 | chr13:63103541-63103542 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs539759288 | chr13:63103577-63103578 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs557884176 | chr13:63103600-63103601 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs576239751 | chr13:63103619-63103620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs182321836 | chr13:63103620-63103621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs35681681 | chr13:63103625-63103626 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs555219402 | chr13:63103656-63103657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs71734625 | chr13:63103697-63103698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs438428 | chr13:63103784-63103785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs573562182 | chr13:63103799-63103800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs200600719 | chr13:63103829-63103830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs12428777 | chr13:63103834-63103835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs1763904 | chr13:63103838-63103839 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs1664118 | chr13:63103868-63103869 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs540707744 | chr13:63103901-63103902 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs559318901 | chr13:63103903-63103904 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs533052760 | chr13:63104025-63104026 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs545323106 | chr13:63104034-63104035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs35731651 | chr13:63104051-63104052 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs547079388 | chr13:63104077-63104078 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs112600549 | chr13:63104088-63104089 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs142445017 | chr13:63104109-63104110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs563430125 | chr13:63104318-63104319 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs530765240 | chr13:63104320-63104321 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs550293318 | chr13:63104408-63104409 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs568487523 | chr13:63104413-63104414 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs187384112 | chr13:63104434-63104435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs376649499 | chr13:63104443-63104444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs566086758 | chr13:63104468-63104469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs371206626 | chr13:63104706-63104707 | 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 |
Myelofibrosis | 22110671 | CNVD |
Anaplastic thyroid cancer | 18753363 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Schizophrenia | 20967226 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr13:63101200-63104800 | Weak transcription | Primary T helper memory cells from peripheral blood 1 | blood |
2 | chr13:63103200-63103600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |