Variant report
Variant | esv3424015 |
---|---|
Chromosome Location | chr3:159343776-159344150 |
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 | rs546413336 | chr3:159343795-159343796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs575136831 | chr3:159343798-159343799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs185907266 | chr3:159343820-159343821 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs564653613 | chr3:159343845-159343846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs59556163 | chr3:159343853-159343854 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs145199144 | chr3:159343862-159343863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs573209969 | chr3:159343875-159343876 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs529237838 | chr3:159343878-159343879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs71954858 | chr3:159343879-159343880 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs60703010 | chr3:159343882-159343883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs57999951 | chr3:159343886-159343887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs533209298 | chr3:159343890-159343891 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs57495869 | chr3:159343894-159343895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs60215957 | chr3:159343902-159343903 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs60765954 | chr3:159343906-159343907 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs183160191 | chr3:159343910-159343911 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs534569584 | chr3:159343915-159343916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs137878191 | chr3:159343918-159343919 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs60492480 | chr3:159343922-159343923 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs527611839 | chr3:159343923-159343924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs577838616 | chr3:159343925-159343926 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs368372097 | chr3:159343926-159343927 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs149396648 | chr3:159343929-159343930 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs149844524 | chr3:159343930-159343931 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs59898340 | chr3:159343933-159343934 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs185997079 | chr3:159343940-159343941 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs58305848 | chr3:159343941-159343942 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs571366901 | chr3:159343943-159343944 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs538684060 | chr3:159343946-159343947 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs56862896 | chr3:159343951-159343952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs71948818 | chr3:159343958-159343959 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs558091894 | chr3:159343961-159343962 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs573365161 | chr3:159343965-159343966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs201832310 | chr3:159343966-159343967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs375744451 | chr3:159343968-159343969 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs9818026 | chr3:159343969-159343970 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs190557372 | chr3:159343972-159343973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs58712677 | chr3:159343984-159343985 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs57659266 | chr3:159343988-159343989 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs573745160 | chr3:159343992-159343993 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs544203334 | chr3:159343996-159343997 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs71628411 | chr3:159343999-159344000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs377385940 | chr3:159344000-159344001 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs533268088 | chr3:159344002-159344003 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs7647382 | chr3:159344003-159344004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs60073901 | chr3:159344006-159344007 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs7614920 | chr3:159344010-159344011 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs59905140 | chr3:159344018-159344019 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs60831003 | chr3:159344019-159344020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs370938294 | chr3:159344026-159344027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 22032731 | CNVD |
Breast cancer | 16461572 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Melanoma | 21693616 | CNVD |
Lung cancer | 21426551 | CNVD |
Cancer | 21637783 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oral cancer | 21386901 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 22065749 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Breast cancer | 16608533 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
abnormal development | 18461090 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Prostate cancer | 16547154 | CNVD |
Breast cancer | 21364760 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Breast cancer | 21509527 | CNVD |
Effusion lymphoma | 18079361 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 21785460 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:159337600-159344200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr3:159338600-159344200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr3:159338600-159344400 | Weak transcription | HSMMtube | muscle |
4 | chr3:159339200-159350200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
5 | chr3:159340200-159345400 | Weak transcription | Fetal Heart | heart |
6 | chr3:159340200-159347400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
7 | chr3:159342800-159350000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
8 | chr3:159343000-159349200 | Weak transcription | NHEK | skin |
9 | chr3:159343200-159350200 | Weak transcription | HMEC | breast |