rs56316188 chr8:58411252 A>G
- Sequence
ccaaaaaggtgggccagcaccgga[A/G]gcgggggcgcgggttcgggtagcg
- ASB in cell types
- GM12878 (female B-cells) T47D (invasive ductal carcinoma) liver
- ASB for transcription factors
- FOXK2_HUMAN GABPA_HUMAN STAT1_HUMAN EGR1_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| FOXK2_HUMAN | 1.57 | n/a | 1.33 | n/a | n/a | |||
| GABPA_HUMAN | 1.12 | -0.34 | 1.33 | -8.67 | Concordant | |||
| STAT1_HUMAN | 1.79 | 0.05 | 2.00 | n/a | No Hit | |||
| EGR1_HUMAN | 1.56 | -1.58 | 1.33 | 0.80 | Weak Discordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Amygdala, Brain_Caudate_basal_ganglia, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, 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, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Stomach, Testis, Thyroid, Vagina