rs12023153 chr1:16056296 G>C
- Sequence
ggccacattggacattgcaggcct[G/C]ggtctcttgtctcccacacacatc
- ASB in cell types
- Jurkat (T-cells) T cells from peripheral blood GM12878 (female B-cells lymphoblastoid cell line) HMEC (human mammary epithelial cells)
- ASB for transcription factors
- STAG1_HUMAN SMC1A_HUMAN FOXK2_HUMAN CREB1_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| STAG1_HUMAN | 0.66 | 0.37 | 1.04 | n/a | n/a | |||
| SMC1A_HUMAN | 1.79 | -0.02 | 1.83 | n/a | n/a | |||
| FOXK2_HUMAN | 1.92 | -3.47 | 1.50 | n/a | No Hit | |||
| CREB1_HUMAN | 2.45 | -2.34 | 1.25 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adrenal_Gland, 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, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Mucosa, Heart_Atrial_Appendage, Heart_Left_Ventricle, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Thyroid