rs787821 chr12:120487768 A>G
- Sequence
ttatctaggtttgcccaggcacag[A/G]cttatcccataaccttcactatgg
- ASB in cell types
- K562 (myelogenous leukemia) CD34+ bone marrow cell-derived erythroid progenitors
- ASB for transcription factors
- RFX1_HUMAN MTA2_HUMAN TAL1_HUMAN MNT_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| RFX1_HUMAN | n/a | 0.35 | 2.00 | 1.03 | Weak Concordant | |||
| MTA2_HUMAN | -0.87 | 2.55 | 2.00 | n/a | n/a | |||
| TAL1_HUMAN | 0.02 | 1.03 | 1.92 | n/a | No Hit | |||
| MNT_HUMAN | -0.92 | 1.66 | 2.00 | n/a | n/a | |||
| REQU_HUMAN | -2.40 | 2.22 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, 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, Breast_Mammary_Tissue, 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, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Uterus, Whole_Blood