Variant report
Variant | esv3354274 |
---|---|
Chromosome Location | chr4:69959663-69960711 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | EP300 | chr4:69960670-69962557 | A549 | lung: | n/a | chr4:69962195-69962209 chr4:69961953-69961967 |
2 | FOXA2 | chr4:69960708-69962644 | HepG2 | liver: | n/a | chr4:69962097-69962109 |
3 | GATA3 | chr4:69960681-69962562 | A549 | lung: | n/a | n/a |
4 | MYC | chr4:69960351-69960393 | MCF10A-Er-Src | breast: | n/a | n/a |
5 | SP1 | chr4:69960708-69961661 | A549 | lung: | n/a | n/a |
6 | TBL1XR1 | chr4:69960349-69960361 | GM12878 | blood: | n/a | n/a |
7 | TCF12 | chr4:69960624-69962518 | A549 | lung: | n/a | n/a |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
UGT2B7 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs575358816 | chr4:69959677-69959678 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs537650589 | chr4:69959693-69959694 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs558031456 | chr4:69959705-69959706 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs577804324 | chr4:69959734-69959735 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs79423425 | chr4:69959754-69959755 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs553782706 | chr4:69959761-69959762 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs13118991 | chr4:69959764-69959765 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs573570038 | chr4:69959782-69959783 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs180682704 | chr4:69959789-69959790 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs562245782 | chr4:69959803-69959804 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs150317160 | chr4:69959814-69959815 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs368101127 | chr4:69959815-69959816 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs369707355 | chr4:69959837-69959838 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs531281810 | chr4:69959844-69959845 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs138316705 | chr4:69959847-69959848 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs200141882 | chr4:69959849-69959850 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs200908563 | chr4:69959850-69959851 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs201723882 | chr4:69959851-69959852 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs199990438 | chr4:69959852-69959853 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs201120598 | chr4:69959853-69959854 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs202158877 | chr4:69959854-69959855 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs71204074 | chr4:69959875-69959876 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs371486938 | chr4:69959889-69959890 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs544388801 | chr4:69959958-69959959 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs564372300 | chr4:69960162-69960163 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs533228798 | chr4:69960163-69960164 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs200486722 | chr4:69960164-69960165 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs201342087 | chr4:69960165-69960166 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs529282699 | chr4:69960199-69960200 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs116604766 | chr4:69960206-69960207 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs62296944 | chr4:69960210-69960211 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs185118881 | chr4:69960274-69960275 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs190066888 | chr4:69960294-69960295 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs369911759 | chr4:69960343-69960344 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs573163244 | chr4:69960347-69960348 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs144909815 | chr4:69960349-69960350 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs571495804 | chr4:69960378-69960379 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs371994195 | chr4:69960380-69960381 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs6600879 | chr4:69960387-69960388 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs369870262 | chr4:69960465-69960466 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs6600880 | chr4:69960480-69960481 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
42 | rs181455316 | chr4:69960526-69960527 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs149033173 | chr4:69960547-69960548 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs4554144 | chr4:69960555-69960556 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs73823857 | chr4:69960558-69960559 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs528069752 | chr4:69960581-69960582 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs564309667 | chr4:69960592-69960593 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs373455811 | chr4:69960633-69960634 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs386675646 | chr4:69960669-69960670 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs112839673 | chr4:69960670-69960671 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Gastrointestinal stromal cancer | 16982739 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Parkinson disease | 21956041 | CNVD |
Mental retardation | 20522426 | CNVD |
delayed speech | 20522426 | CNVD |
growth disorder | 20522426 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Parkinson disease | 18923514 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 16272173 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
4q-syndrome | 17576883 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Muscular dystrophy | 21149563 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cervical cancer | 21062161 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 16608533 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Lung cancer | 19208797 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21785460 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 16573809 | CNVD |
Osteoporosis | 18992858 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Graft versus host disease | 20877625 | CNVD |
Breast cancer | 21990379 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Osteoporosis | 20877625 | CNVD |
Osteoporosis | 19737800 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:69957400-69960000 | Enhancers | NHEK | skin |
2 | chr4:69957600-69959800 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
3 | chr4:69958000-69960800 | Weak transcription | HUVEC | blood vessel |
4 | chr4:69958200-69961000 | Weak transcription | HMEC | breast |
5 | chr4:69958400-69961800 | Weak transcription | Osteobl | bone |
6 | chr4:69959200-69961000 | Enhancers | A549 | lung |
7 | chr4:69959400-69960400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
8 | chr4:69959400-69960800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
9 | chr4:69959600-69960000 | Weak transcription | HepG2 | liver |
10 | chr4:69959600-69960400 | Weak transcription | Muscle Satellite Cultured Cells | -- |
11 | chr4:69959600-69960800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
12 | chr4:69959600-69960800 | Weak transcription | Fetal Intestine Small | intestine |
13 | chr4:69959600-69960800 | Weak transcription | NH-A | brain |
14 | chr4:69959600-69980000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
15 | chr4:69959800-69960200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
16 | chr4:69960000-69960400 | Weak transcription | NHEK | skin |
17 | chr4:69960000-69962000 | Enhancers | HepG2 | liver |
18 | chr4:69960200-69962600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
19 | chr4:69960400-69960600 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
20 | chr4:69960400-69960800 | Enhancers | Muscle Satellite Cultured Cells | -- |
21 | chr4:69960400-69962200 | Enhancers | Fetal Intestine Large | intestine |
22 | chr4:69960400-69962400 | Enhancers | NHEK | skin |
23 | chr4:69960600-69961000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |