rs303760 chr18:23503774 C>T
- Sequence
gcggccctgccggggtcgtgggcg[C/T]gccaaggccggtcccgcgcgacca
- ASB in cell types
- K562 (myelogenous leukemia) BJ1-hTERT (Human fibroblast telomerase immortalized cell line) BEAS-2B (bronchial epithelium) HUVEC-C (HUVEC, umbilical vein endothelial cells)
- ASB for transcription factors
- EGR1_HUMAN GCR_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 | -1.81 | 2.37 | 1.40 | 2.47 | Concordant | |||
| GCR_HUMAN | 0.07 | 1.10 | 1.08 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, 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, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Stomach, Thyroid, Uterus, Whole_Blood