rs12129745 chr1:28245806 G>C
- Sequence
agccaccgtgcctggcccaagagt[G/C]ttaaagtctggtgcagtggcctgt
- ASB in cell types
- GM12878 (female B-cells)
- ASB for transcription factors
- BHE40_HUMAN IKZF1_HUMAN IKZF2_HUMAN RELB_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 | |
|---|---|---|---|---|---|---|---|---|
| BHE40_HUMAN | 2.99 | n/a | 1.33 | n/a | No Hit | |||
| IKZF1_HUMAN | 2.83 | -0.17 | 2.89 | n/a | No Hit | |||
| IKZF2_HUMAN | 2.35 | -2.48 | 1.33 | n/a | n/a | |||
| RELB_HUMAN | 2.18 | -2.49 | 1.33 | n/a | No Hit | |||
| SMCA5_HUMAN | 1.92 | -0.79 | 1.33 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, 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, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood