Variant report
Variant | esv3375378 |
---|---|
Chromosome Location | chr3:150552662-150556960 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:150479805..150481364-chr3:150556463..150558092,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000181788 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs570577478 | chr3:150552716-150552717 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs141241685 | chr3:150552717-150552718 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs181788058 | chr3:150552728-150552729 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs12273557 | chr3:150552752-150552753 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs371533560 | chr3:150552783-150552784 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs146955761 | chr3:150552792-150552793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs535787914 | chr3:150552830-150552831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs555369839 | chr3:150552853-150552854 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs574802424 | chr3:150552855-150552856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs533922845 | chr3:150552856-150552857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs554111039 | chr3:150552901-150552902 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs573228066 | chr3:150552916-150552917 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs74833286 | chr3:150552923-150552924 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs77950886 | chr3:150552937-150552938 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs577454124 | chr3:150552977-150552978 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs545854694 | chr3:150552993-150552994 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs556381869 | chr3:150553015-150553016 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs576227555 | chr3:150553026-150553027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs79509605 | chr3:150553034-150553035 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs542539333 | chr3:150553037-150553038 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs186909774 | chr3:150553042-150553043 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs79659131 | chr3:150553087-150553088 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs527951596 | chr3:150553136-150553137 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs11714948 | chr3:150553170-150553171 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
25 | rs555256841 | chr3:150553177-150553178 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs192195893 | chr3:150553180-150553181 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs533068873 | chr3:150553190-150553191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs183734326 | chr3:150553223-150553224 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs564201820 | chr3:150553311-150553312 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs187806860 | chr3:150553328-150553329 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs189547010 | chr3:150553340-150553341 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs549290788 | chr3:150553360-150553361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs137933094 | chr3:150553375-150553376 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs534874456 | chr3:150553384-150553385 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs4679986 | chr3:150553413-150553414 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs570505077 | chr3:150553414-150553415 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs539593522 | chr3:150553425-150553426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs556219701 | chr3:150553468-150553469 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs576264414 | chr3:150553475-150553476 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs542073601 | chr3:150553501-150553502 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs182207111 | chr3:150553532-150553533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs563479725 | chr3:150553611-150553612 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs59665279 | chr3:150553618-150553619 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs200503291 | chr3:150553630-150553631 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs67117841 | chr3:150553650-150553651 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs56188230 | chr3:150553652-150553653 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs572653468 | chr3:150553671-150553672 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs541668809 | chr3:150553675-150553676 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs186995570 | chr3:150553712-150553713 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs566033633 | chr3:150553728-150553729 | 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 |
Blepharophimosis-ptosis-epicanthus inversus syndrome | 22067867 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 21364760 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Ovarian clear cell carcinoma | 19293255 | CNVD |
Breast cancer | 16608533 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Lung cancer | 16773561 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
abnormal development | 18461090 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Uveal melanoma | 20484589 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:150550600-150556200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr3:150556200-150556800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr3:150556400-150556600 | Bivalent Enhancer | iPS-18 Cell Line | embryonic stem cell |
4 | chr3:150556400-150556600 | Bivalent Enhancer | Foreskin Fibroblast Primary Cells skin02 | Skin |
5 | chr3:150556600-150556800 | Bivalent Enhancer | HUES48 Cell Line | embryonic stem cell |
6 | chr3:150556800-150558400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |