rs4801273 chr19:58488906 A>G
- Sequence
ccaatagcaggtattggtgaggaa[A/G]tgaataccaggacctgtgcatatg
- ASB in cell types
- GM12878 (female B-cells) GM12891 (male B-cells) K562 (myelogenous leukemia)
- ASB for transcription factors
- SPI1_HUMAN MEF2B_HUMAN COT1_HUMAN ELF1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| SPI1_HUMAN | -3.36 | 2.70 | 1.50 | 2.91 | Concordant | |||
| MEF2B_HUMAN | -1.76 | 2.04 | 1.33 | n/a | No Hit | |||
| COT1_HUMAN | -1.81 | 1.87 | 1.33 | n/a | No Hit | |||
| ELF1_HUMAN | -1.65 | 1.98 | 1.33 | 1.81 | Weak Concordant | |||
| IKZF1_HUMAN | -1.00 | 1.12 | 1.33 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, 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, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, 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, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Whole_Blood