rs3754884 chr2:98508913 C>T
- Sequence
aaatgacgaatgaggcctggtgcg[C/T]gggagtgagaggggtcatgtatgg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) MCF10A (breast epithelial cells) CD14+ monocytes
- ASB for transcription factors
- EGR1_HUMAN TEAD4_HUMAN IKZF1_HUMAN STAT1_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| EGR1_HUMAN | n/a | 2.43 | 2.17 | 7.15 | Concordant | |||
| TEAD4_HUMAN | -2.66 | 3.05 | 1.00 | n/a | No Hit | |||
| IKZF1_HUMAN | 0.95 | 2.84 | 1.50 | 2.39 | Concordant | |||
| STAT1_HUMAN | 1.86 | 0.11 | 3.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, 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, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood