rs240066 chr22:21938623 C>A
- Sequence
gcaaaggaagggaaaggaaatggc[C/A]gacaggaaatggcaaggaagggaa
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney) GM8330-8-derived NPC erythroid cells
- ASB for transcription factors
- GABP1_HUMAN CHD8_HUMAN PATZ1_HUMAN ELF4_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| GABP1_HUMAN | 1.21 | n/a | 6.00 | n/a | n/a | |||
| CHD8_HUMAN | 1.97 | -0.29 | 1.00 | n/a | n/a | |||
| PATZ1_HUMAN | 3.24 | n/a | 2.00 | 0.04 | Weak Discordant | |||
| ELF4_HUMAN | 1.71 | n/a | 5.00 | 1.38 | Weak Discordant | |||
| EP400_HUMAN | 1.05 | n/a | 6.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP body mass index (bmi), chronic kidney disease, comorbid depressive syndrome and alcohol dependence, obesity with early age of onset (age >2), rheumatoid arthritis
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, Kidney_Cortex, Liver, Lung, Minor_Salivary_Gland, 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, Uterus, Vagina, Whole_Blood