rs175040 chr14:75002852 A>G
- Sequence
cgggagatcggcaacgaagggcgt[A/G]gccggcttccactcaaacttgagg
- ASB in cell types
- liver hMADS-3 (adipose-derived stem cells) CTV-1 (Adult T acute lymphoblastic leukemia) primary human Th1 T cells
- ASB for transcription factors
- GABPA_HUMAN FLI1_HUMAN KLF11_HUMAN SP1_HUMAN
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-log10 FDR of Ref (A) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| GABPA_HUMAN | 1.91 | 0.10 | 1.30 | n/a | No Hit | |||
| FLI1_HUMAN | 0.01 | 1.35 | 1.33 | n/a | No Hit | |||
| KLF11_HUMAN | 1.37 | -1.12 | 1.00 | n/a | n/a | |||
| SP1_HUMAN | 1.58 | -0.49 | 1.00 | 2.40 | Discordant |
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Motif analysis
Genetic associations
GRASP advanced age-related macular degeneration, advanced age-related macular degeneration (choroidal neovascularization) vs. no amd, fasting blood glucose, height, homa-ir, parkinsons disease, total cholesterol change with statins, years of education
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_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, 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, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Uterus, Whole_Blood