rs17483548 chr15:78437971 G>A
- Sequence
tcatgaccccaatagaaaacttaa[G/A]gccgcaactaagtaacggatcgct
- ASB in cell types
- CD14+ monocytes GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- STAT1_HUMAN BRD4_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| STAT1_HUMAN | 1.73 | -0.13 | 1.75 | 2.53 | Discordant | |||
| BRD4_HUMAN | 1.07 | 0.47 | 1.73 | n/a | n/a |
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Motif analysis
Genetic associations
EMBL-EBI post bronchodilator fev1, post bronchodilator fev1/fvc ratio, post bronchodilator fev1/fvc ratio in copd
GRASP chronic obstructive pulmonary disease (copd), lung cancer, nicotine dependence (smoking), nicotine dependence (smoking), cigarettes per day, triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, 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, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood