rs2748483 chr6:146014424 A>T
- Sequence
cttcttcaaagtgctattaaaact[A/T]tgactcagcaaatcacttgcaaga
- ASB in cell types
- K562 (myelogenous leukemia)
- ASB for transcription factors
- MAFG_HUMAN ZN316_HUMAN EMSY_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| MAFG_HUMAN | 3.25 | n/a | 1.50 | -1.27 | Weak Concordant | |||
| ZN316_HUMAN | 2.17 | -1.99 | 1.00 | n/a | No Hit | |||
| EMSY_HUMAN | 2.82 | -2.49 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP 2 hour glucose, abnormal involuntary movement scale, barnes akathisia rating scale, height, neuroticism, obesity with early age of onset (age >2)
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, 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, Whole_Blood