rs1003533 chr5:132419959 C>T
- Sequence
ccatgggtgagtggagagcctgac[C/T]ggagtttttctctaatttgttctg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) LUHMES (lund human mesencephalic cells)
- ASB for transcription factors
- STAG1_HUMAN ANDR_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| STAG1_HUMAN | 0.73 | 0.06 | 1.00 | n/a | n/a | |||
| ANDR_HUMAN | 1.99 | -0.94 | 2.00 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GRASP advanced age-related macular degeneration (geographic atrophy), college completion, exceptional longevity, fasting blood glucose, height, ldl cholesterol, ldl cholesterol change with statins, microalbuminuria, plasma fibrinogen, resistance to kuru in aged women despite likely exposure, total cholesterol, triglycerides, urinary albumin-to-creatinine ratio, waist hip ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, 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_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood