rs17157578 chr11:62841496 G>C
- Sequence
tctcaacaagacactcaaacacgc[G/C]tcattcaacacactagcgataaaa
- ASB in cell types
- fetal bone marrow-derived mononuclear cells HT29 (colon adenocarcinoma) HepG2 (hepatoblastoma) BEAS-2B (bronchial epithelium)
- ASB for transcription factors
- KMT2A_HUMAN CREB1_HUMAN EZH2_HUMAN GCR_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| KMT2A_HUMAN | 2.41 | -3.29 | 1.50 | n/a | n/a | |||
| CREB1_HUMAN | 1.43 | 0.34 | 1.39 | -3.65 | Concordant | |||
| EZH2_HUMAN | 1.59 | -0.91 | 1.33 | n/a | n/a | |||
| GCR_HUMAN | 1.47 | 0.06 | 1.50 | n/a | No Hit | |||
| NR1H3_HUMAN | 2.09 | -2.91 | 3.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP body mass index (bmi), obesity with early age of onset (age >2), serum creatinine, total cholesterol, total cholesterol change with statins
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_Cerebellum, 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, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood