Variant report
Variant | esv3499166 |
---|---|
Chromosome Location | chr20:15145852-15148950 |
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 | rs186015604 | chr20:15145871-15145872 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs561925151 | chr20:15145900-15145901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs376434496 | chr20:15145918-15145919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs370899927 | chr20:15145923-15145924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs386812749 | chr20:15145930-15145931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs562176656 | chr20:15145932-15145933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs573838990 | chr20:15145948-15145949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs529672085 | chr20:15145956-15145957 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs145643902 | chr20:15145961-15145962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs370454643 | chr20:15145963-15145964 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs560212131 | chr20:15145971-15145972 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs562774958 | chr20:15145981-15145982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs190921328 | chr20:15145995-15145996 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs530819347 | chr20:15146070-15146071 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs550509981 | chr20:15146110-15146111 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs138183088 | chr20:15146120-15146121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs183877534 | chr20:15146130-15146131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs6034119 | chr20:15146131-15146132 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs566902454 | chr20:15146226-15146227 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs35924544 | chr20:15146276-15146277 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs188882440 | chr20:15146300-15146301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs200980178 | chr20:15146328-15146329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs708975 | chr20:15146357-15146358 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs564225628 | chr20:15146467-15146468 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs553840583 | chr20:15146486-15146487 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs533238269 | chr20:15146487-15146488 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs6043122 | chr20:15146510-15146511 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs192310046 | chr20:15146674-15146675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs576211950 | chr20:15146681-15146682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs543733010 | chr20:15146688-15146689 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs183022254 | chr20:15146691-15146692 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs546643280 | chr20:15146692-15146693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs574218722 | chr20:15146740-15146741 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs367693234 | chr20:15146751-15146752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs566466567 | chr20:15146763-15146764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs113932561 | chr20:15146809-15146810 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs187285824 | chr20:15146812-15146813 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs148320855 | chr20:15146835-15146836 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs535174075 | chr20:15146883-15146884 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs564308877 | chr20:15146972-15146973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs1657964 | chr20:15146989-15146990 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs549967573 | chr20:15147031-15147032 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs191731816 | chr20:15147109-15147110 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs184041059 | chr20:15147135-15147136 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs111761606 | chr20:15147137-15147138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs799179 | chr20:15147150-15147151 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs565923385 | chr20:15147157-15147158 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs200416960 | chr20:15147258-15147259 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs140412499 | chr20:15147269-15147270 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs141282400 | chr20:15147279-15147280 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 16397240 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Wilms tumour | 21544195 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 16272173 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Oral cancer | 19627613 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Colorectal cancer | 21645411 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 22495311 | CNVD |
Glaucoma | 21310917 | CNVD |
Alagille syndrome | 22470819 | CNVD |
Lung cancer | 16773561 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Alagille syndrome | 17576883 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ewing''s sarcoma | 18628472 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Kabuki syndrome | 21720541 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Neurocytoma | 17123091 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Cancer | 20164919 | CNVD |
Multiple sclerosis | 20663923 | CNVD |
Schizophrenia | 20663923 | CNVD |
brain infarct | 20663923 | CNVD |
Breast cancer | 22522925 | CNVD |
Cancer | 20164920 | CNVD |
Schizophrenia | 23813976 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21364760 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:15143400-15156400 | Weak transcription | Thymus | Thymus |
2 | chr20:15148600-15149200 | Enhancers | Colon Smooth Muscle | Colon |