rs412000 chr17:58631697 G>C
- Sequence
gtcaccaacagcaaacagcagtta[G/C]aataacgcaacaccaaacactgct
- ASB in cell types
- A549 (lung carcinoma) MV-4-11 (Childhood acute monocytic leukemia) THP-1 (acute monocytic leukemia) HT1080 (fibrosarcoma)
- ASB for transcription factors
- JUN_HUMAN BRD4_HUMAN RAD21_HUMAN STAT1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (C) ASB
Details
Transcription factors
Cell types
Uniprot ID | Effect size Ref | Effect size Alt | FDR Ref | FDR Alt | Mean BAD | Motif fold change | Motif concordance | |
|---|---|---|---|---|---|---|---|---|
| JUN_HUMAN | 2.91 | 0.20 | 2.45 | -0.69 | Weak Concordant | |||
| BRD4_HUMAN | 2.36 | 0.50 | 1.56 | n/a | n/a | |||
| RAD21_HUMAN | 1.25 | -0.31 | 1.00 | n/a | n/a | |||
| STAT1_HUMAN | 2.39 | n/a | 3.00 | n/a | No Hit | |||
| REST_HUMAN | 2.91 | n/a | 3.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP chronic kidney disease, college completion, serum creatinine, systolic blood pressure (sbp), years of education
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Kidney_Cortex, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood