rs937291 chr1:45491367 G>T
- Sequence
gtccagaaaagccaatcaacagcc[G/T]taggtgccaactccggaggacgaa
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney) GM12878 (female B-cells) MCF7 (Invasive ductal breast carcinoma)
- ASB for transcription factors
- MGAP_HUMAN MNT_HUMAN RING2_HUMAN FOXK2_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 | |
|---|---|---|---|---|---|---|---|---|
| MGAP_HUMAN | 1.99 | n/a | 1.33 | n/a | n/a | |||
| MNT_HUMAN | 2.04 | -0.34 | 1.47 | n/a | n/a | |||
| RING2_HUMAN | 2.34 | 0.53 | 1.33 | n/a | n/a | |||
| FOXK2_HUMAN | 2.33 | 0.69 | 1.37 | n/a | n/a | |||
| SMCA4_HUMAN | 2.44 | n/a | 1.17 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP autism, autism without verbal ability, diabetic retinopathy in type 2 diabetes mellitus, fasting blood glucose, hdl cholesterol, height
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, 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, 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