rs17257120 chr1:26123610 A>G
- Sequence
cctcactttgcctgccctgatatg[A/G]tcacttgttgagtcactggagttc
- ASB in cell types
- K562 (myelogenous leukemia) BEAS-2B (bronchial epithelium) CD34+ hematopoietic stem cells-derived proerythroblasts
- ASB for transcription factors
- GCR_HUMAN ARI1B_HUMAN REQU_HUMAN SMCA4_HUMAN
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-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| GCR_HUMAN | 2.38 | -0.17 | 1.11 | n/a | No Hit | |||
| ARI1B_HUMAN | 1.31 | -1.31 | 1.00 | n/a | n/a | |||
| REQU_HUMAN | 1.54 | -0.84 | 1.00 | n/a | n/a | |||
| SMCA4_HUMAN | 1.45 | -1.11 | 1.00 | n/a | n/a | |||
| MTA3_HUMAN | 2.81 | -2.46 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP birth weight, height, lung function, ratio of forced expiratory volume in 1 second (fev1) to forced vital capacity (fvc) (fev1/fvc) ratio percent predicted (in asthmatic participants), triglycerides, waist hip ratio
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_Hypothalamus, Brain_Putamen_basal_ganglia, Brain_Substantia_nigra, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid