Variant report
Variant | esv3398614 |
---|---|
Chromosome Location | chr4:19520704-19523102 |
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 | rs187751560 | chr4:19522281-19522282 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs542236862 | chr4:19522282-19522283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs191969118 | chr4:19522337-19522338 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs148422025 | chr4:19522359-19522360 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs115788659 | chr4:19522370-19522371 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs565078705 | chr4:19522378-19522379 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs79831320 | chr4:19522395-19522396 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs541104136 | chr4:19522398-19522399 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs562977305 | chr4:19522459-19522460 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs530264842 | chr4:19522460-19522461 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs542407506 | chr4:19522464-19522465 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs529640061 | chr4:19522556-19522557 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs73099625 | chr4:19522567-19522568 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs561159222 | chr4:19522631-19522632 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs553833722 | chr4:19522651-19522652 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs80066916 | chr4:19522656-19522657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs566417199 | chr4:19522672-19522673 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs527387073 | chr4:19522681-19522682 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs77603499 | chr4:19522686-19522687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs183883567 | chr4:19522703-19522704 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs79996738 | chr4:19522729-19522730 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs369152297 | chr4:19522766-19522767 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs79304279 | chr4:19522771-19522772 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs552852629 | chr4:19522773-19522774 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs142473801 | chr4:19522840-19522841 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs535450573 | chr4:19522846-19522847 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs566256628 | chr4:19522871-19522872 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs560786689 | chr4:19522874-19522875 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs73099627 | chr4:19522908-19522909 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
30 | rs140995444 | chr4:19522945-19522946 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs187643594 | chr4:19522967-19522968 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs558327976 | chr4:19522973-19522974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs577089400 | chr4:19522982-19522983 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs544427333 | chr4:19522984-19522985 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs562603936 | chr4:19522994-19522995 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs574698416 | chr4:19523002-19523003 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs192081925 | chr4:19523016-19523017 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs73099628 | chr4:19523027-19523028 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs368797014 | chr4:19523030-19523031 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs184305799 | chr4:19523042-19523043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs551853881 | chr4:19523056-19523057 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs187238434 | chr4:19523078-19523079 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Oral squamous cell carcinoma | 17134496 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17603634 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 17533364 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Cancer | 21637783 | CNVD |
Melanoma | 21693616 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Cervical cancer | 21062161 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Neuroblastoma | 18923191 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21785460 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21858162 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Cancer | 21183584 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
Breast cancer | 17133270 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Melanoma | 22183965 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ovarian cancer | 17908972 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cancer | 20164919 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:19522200-19523000 | Enhancers | Brain Hippocampus Middle | brain |
2 | chr4:19522200-19523000 | Enhancers | Brain Inferior Temporal Lobe | brain |
3 | chr4:19522200-19523000 | Enhancers | Fetal Brain Female | brain |
4 | chr4:19522400-19522800 | Enhancers | Brain Angular Gyrus | brain |
5 | chr4:19522400-19523000 | Enhancers | Brain Cingulate Gyrus | brain |
6 | chr4:19522600-19523000 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
7 | chr4:19522600-19523000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
8 | chr4:19522600-19523200 | Enhancers | Brain Substantia Nigra | brain |
9 | chr4:19522600-19523800 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
10 | chr4:19522800-19523000 | Enhancers | Right Atrium | heart |