rs778594 chr5:140647719 T>C
- Sequence
aaagcttggccaatgatataaaag[T/C]attgtaggaccgctgcgaggtcaa
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells) A549 (lung carcinoma) thymus-derived CD34- cells
- ASB for transcription factors
- FOXK2_HUMAN GABP1_HUMAN BC11B_HUMAN COT1_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| FOXK2_HUMAN | 3.06 | 0.03 | 1.67 | n/a | n/a | |||
| GABP1_HUMAN | 0.02 | 1.66 | 1.67 | n/a | n/a | |||
| BC11B_HUMAN | 2.32 | n/a | 2.50 | n/a | n/a | |||
| COT1_HUMAN | 2.31 | -3.14 | 2.00 | n/a | No Hit | |||
| NRF1_HUMAN | 1.75 | -2.34 | 2.00 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, diastolic blood pressure (dbp), hdl cholesterol change with statins, homa-b, ldl cholesterol, obesity with early age of onset (age >2), systolic blood pressure (sbp)
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, 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, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood