Variant report
Variant | esv3429227 |
---|---|
Chromosome Location | chr20:14571511-14573560 |
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 | rs6110344 | chr20:14571563-14571564 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs563436878 | chr20:14571564-14571565 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs560594684 | chr20:14571565-14571566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs6110345 | chr20:14571578-14571579 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs6079502 | chr20:14571644-14571645 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs549294053 | chr20:14571652-14571653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs546813721 | chr20:14571658-14571659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs567863157 | chr20:14571666-14571667 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs528751761 | chr20:14571685-14571686 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs77686665 | chr20:14571710-14571711 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs139882799 | chr20:14571713-14571714 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs369273051 | chr20:14571740-14571741 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs565638552 | chr20:14571770-14571771 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs539432875 | chr20:14571792-14571793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs557834796 | chr20:14571818-14571819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs370918293 | chr20:14571878-14571879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs548711099 | chr20:14571955-14571956 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs531927939 | chr20:14571958-14571959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs571362506 | chr20:14571994-14571995 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs538879274 | chr20:14572023-14572024 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs374249184 | chr20:14572025-14572026 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs6033981 | chr20:14572059-14572060 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs141597771 | chr20:14572060-14572061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs573804908 | chr20:14572072-14572073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs534568547 | chr20:14572080-14572081 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs59468155 | chr20:14572088-14572089 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs577560752 | chr20:14572124-14572125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs544978041 | chr20:14572129-14572130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs563373046 | chr20:14572134-14572135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs575297155 | chr20:14572215-14572216 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs62202902 | chr20:14572238-14572239 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs561277822 | chr20:14572254-14572255 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs148847248 | chr20:14572270-14572271 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs75497096 | chr20:14572295-14572296 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs546918445 | chr20:14572298-14572299 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs371998417 | chr20:14572300-14572301 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs79435481 | chr20:14572362-14572363 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs532885196 | chr20:14572380-14572381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs199896572 | chr20:14572387-14572388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs553848654 | chr20:14572391-14572392 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs554223133 | chr20:14572418-14572419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs2876381 | chr20:14572425-14572426 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
43 | rs189137739 | chr20:14572434-14572435 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs142526622 | chr20:14572436-14572437 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs539721090 | chr20:14572468-14572469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs536721774 | chr20:14572489-14572490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs549067762 | chr20:14572497-14572498 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs181571597 | chr20:14572619-14572620 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs556384089 | chr20:14572626-14572627 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs185725792 | chr20:14572636-14572637 | Weak transcription Enhancers | 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 |
Breast cancer | 17142309 | CNVD |
Cancer | 20164920 | CNVD |
Schizophrenia | 23813976 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Autism | 20531469 | CNVD |
Breast cancer | 21364760 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:14570600-14577400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr20:14572600-14573000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
3 | chr20:14572600-14573000 | Enhancers | HMEC | breast |