rs9461229 chr6:25992051 G>T
- Sequence
cagctggaaagcgccgtgaccacc[G/T]gtgtccccagctggagcagggcgg
- ASB in cell types
- keratinocytes HepG2 (hepatoblastoma) GM12878 (female B-cells lymphoblastoid cell line) MOLM-13(acute monocytic leukemia(AML), Homo sapiens)
- ASB for transcription factors
- SNAI2_HUMAN CAF1B_HUMAN ITF2_HUMAN TFE2_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| SNAI2_HUMAN | -5.21 | 3.24 | 1.50 | 4.34 | Concordant | |||
| CAF1B_HUMAN | -1.89 | 2.84 | 2.00 | n/a | n/a | |||
| ITF2_HUMAN | n/a | 2.45 | 2.50 | 3.74 | Concordant | |||
| TFE2_HUMAN | -1.80 | 1.97 | 1.17 | 4.18 | Concordant | |||
| FOXK2_HUMAN | 2.50 | n/a | 1.50 | 4.14 | Discordant |
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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, Colon_Sigmoid, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Uterus, Vagina, Whole_Blood