Variant report
Variant | esv3395883 |
---|---|
Chromosome Location | chr3:121301628-121302010 |
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 |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs554848077 | chr3:121301646-121301647 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs150490646 | chr3:121301678-121301679 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs192692474 | chr3:121301746-121301747 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs184452178 | chr3:121301750-121301751 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs60442485 | chr3:121301755-121301756 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs187629172 | chr3:121301763-121301764 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs141979781 | chr3:121301799-121301800 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs562647393 | chr3:121301801-121301802 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs551414859 | chr3:121301830-121301831 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs571193228 | chr3:121301843-121301844 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs536662712 | chr3:121301866-121301867 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs376081015 | chr3:121301873-121301874 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs397990948 | chr3:121301894-121301895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs542614068 | chr3:121301928-121301929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs556597253 | chr3:121301987-121301988 | 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 |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Bipolar disorder | 20877625 | CNVD |
Bipolar disorder | 21956041 | CNVD |
Bipolar disorder | 22241247 | CNVD |
Biliary cancer | 18923514 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Cervical cancer | 21062161 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Breast cancer | 16461572 | CNVD |
Neuroblastoma | 17533364 | CNVD |
microdeletion syndrome | 22180640 | 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 |
Breast cancer | 16608533 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Developmental delay | 22180640 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Ovarian cancer | 22174824 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
small cell lung cancer | 20016488 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Autism | 22241247 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:121293600-121311800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |