rs441346 chr20:45910853 G>C
- Sequence
cgagactccactctcatctattgg[G/C]aagttccttgactccacctttctg
- ASB in cell types
- K562 (myelogenous leukemia) T47D (invasive ductal carcinoma) macrophages
- ASB for transcription factors
- MAFG_HUMAN IKZF1_HUMAN HIF1A_HUMAN EMSY_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (C) 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 | n/a | 2.63 | 2.00 | n/a | No Hit | |||
| IKZF1_HUMAN | 0.95 | 0.49 | 1.67 | -4.06 | Concordant | |||
| HIF1A_HUMAN | -2.35 | 1.92 | 1.50 | n/a | No Hit | |||
| EMSY_HUMAN | n/a | 2.21 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, ldl cholesterol, parkinsons disease
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, 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, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood