Variant report
Variant | esv3385861 |
---|---|
Chromosome Location | chr15:72704967-72708957 |
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 | rs186916606 | chr15:72707220-72707221 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs151290415 | chr15:72707262-72707263 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs552008108 | chr15:72707269-72707270 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs563938103 | chr15:72707290-72707291 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs191056770 | chr15:72707309-72707310 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs546254389 | chr15:72707314-72707315 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs376456008 | chr15:72707355-72707356 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs528238600 | chr15:72707381-72707382 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs183228410 | chr15:72707474-72707475 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs186666744 | chr15:72707509-72707510 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs543026167 | chr15:72707534-72707535 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs550407406 | chr15:72707564-72707565 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs568663414 | chr15:72707595-72707596 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs76931401 | chr15:72707655-72707656 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs558003966 | chr15:72707677-72707678 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs373282692 | chr15:72707710-72707711 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs573032911 | chr15:72707736-72707737 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs534234162 | chr15:72707754-72707755 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs189562606 | chr15:72707773-72707774 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs79389409 | chr15:72707788-72707789 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs77288919 | chr15:72707789-72707790 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs144263940 | chr15:72707801-72707802 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs553150740 | chr15:72707884-72707885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs79245999 | chr15:72707888-72707889 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs563085386 | chr15:72707918-72707919 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs146570744 | chr15:72707951-72707952 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs375321969 | chr15:72707952-72707953 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs141253785 | chr15:72707954-72707955 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs545397679 | chr15:72707962-72707963 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs1816645 | chr15:72707991-72707992 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs527961905 | chr15:72708023-72708024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs540262710 | chr15:72708045-72708046 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs561343088 | chr15:72708066-72708067 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs187868044 | chr15:72708082-72708083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs192867164 | chr15:72708165-72708166 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs144979394 | chr15:72708183-72708184 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs533182807 | chr15:72708195-72708196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs551273675 | chr15:72708232-72708233 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs566800272 | chr15:72708274-72708275 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs533844193 | chr15:72708279-72708280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs375056903 | chr15:72708290-72708291 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs567626965 | chr15:72708315-72708316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs538354948 | chr15:72708378-72708379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs373277977 | chr15:72708440-72708441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs12916487 | chr15:72708480-72708481 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs578127474 | chr15:72708524-72708525 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs371245863 | chr15:72708614-72708615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs111380728 | chr15:72708627-72708628 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs554062769 | chr15:72708691-72708692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs572745389 | chr15:72708696-72708697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Ewing''s sarcoma | 21437220 | CNVD |
Schizophrenia | 19415332 | CNVD |
Breast cancer | 22522925 | CNVD |
Wilms tumour | 21544195 | 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 |
Melanoma | 18172304 | 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 |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Lung cancer | 18438408 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Prostate cancer | 18632612 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Cancer | 16751803 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Breast cancer | 17133270 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Gastrointestinal stromal cancer | 20877625 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Prostate cancer | 16573809 | CNVD |
Autism | 17322880 | CNVD |
Autism | 20678247 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Matthew-Wood syndrome | 21085971 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
phobic disorder | 16773131 | CNVD |
Autism | 21480499 | CNVD |
Disorders of sex development | 22290220 | CNVD |
Mental retardation | 19951919 | CNVD |
Mental retardation | 16773131 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
15q24 microdeletion syndrome | 22180641 | CNVD |
15q24 microdeletion syndrome | 19921647 | CNVD |
Disease | 22216833 | CNVD |
Mental retardation | 17360722 | CNVD |
15q24 microdeletion syndrome | 22216833 | CNVD |
15q24 microdeletion syndrome | 22283845 | CNVD |
Developmental delay | 17932688 | CNVD |
craniofacial dysmorphism | 17932688 | CNVD |
digital and genital abnormalities | 17932688 | CNVD |
Mental retardation | 17621639 | CNVD |
Autism | 20808228 | CNVD |
Breast cancer | 21364760 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Epilepsy | 22083797 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr15:72707200-72708000 | Enhancers | HepG2 | liver |
2 | chr15:72708000-72709800 | Weak transcription | HepG2 | liver |