rs823144 chr1:205775418 C>A
- Sequence
gccggcacctcgattccctagacg[C/A]cctcccgcgcgcctctctctcccc
- ASB in cell types
- HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) BEAS-2B (bronchial epithelium)
- ASB for transcription factors
- BCL6B_HUMAN FOXK2_HUMAN ZNF2_HUMAN GLIS1_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| BCL6B_HUMAN | -5.64 | 3.30 | 2.00 | 0.62 | Weak Concordant | |||
| FOXK2_HUMAN | 0.45 | 3.04 | 1.25 | n/a | No Hit | |||
| ZNF2_HUMAN | -1.89 | 2.84 | 2.00 | n/a | No Hit | |||
| GLIS1_HUMAN | n/a | 1.56 | 2.00 | 1.60 | Weak Concordant |
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Motif analysis
Genetic associations
GRASP aortic valve calcium, bipolar disorder, coronary artery disease (cad), mitral annular calcium, systolic blood pressure (sbp)
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, 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, Vagina, Whole_Blood