Variant report
Variant | esv3367296 |
---|---|
Chromosome Location | chr4:103329300-103329683 |
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 |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:103321154..103323341-chr4:103327192..103329685,2 | K562 | blood: |
No data |
No data |
No data |
No data |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs11730958 | chr4:103329311-103329312 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs542373133 | chr4:103329313-103329314 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs202192291 | chr4:103329321-103329322 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs141276658 | chr4:103329323-103329324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs144989625 | chr4:103329331-103329332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs546602125 | chr4:103329338-103329339 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs571172828 | chr4:103329378-103329379 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs148290479 | chr4:103329388-103329389 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs550701624 | chr4:103329416-103329417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs568934299 | chr4:103329423-103329424 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs575934026 | chr4:103329429-103329430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs561419870 | chr4:103329469-103329470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs11730944 | chr4:103329490-103329491 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
14 | rs186239272 | chr4:103329569-103329570 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs202091803 | chr4:103329639-103329640 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs72229594 | chr4:103329649-103329650 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs567978942 | chr4:103329657-103329658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs56879998 | chr4:103329668-103329669 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 17603634 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Breast cancer | 16272173 | 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 |
Adenoid cystic carcinoma | 18698036 | CNVD |
Lung cancer | 19208797 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 21183584 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17133270 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20459617 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
Breast cancer | 17393978 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Prostate cancer | 16573809 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Melanoma | 20688739 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute myeloid leukemia | 18000384 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Myelofibrosis | 22110671 | CNVD |
myeloid cancer | 21057493 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:103325000-103341600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr4:103327400-103332200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
3 | chr4:103328000-103332200 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
4 | chr4:103328200-103332200 | Weak transcription | Primary monocytes fromperipheralblood | blood |
5 | chr4:103328600-103332200 | Weak transcription | Hela-S3 | cervix |