rs519989 chr1:89757841 C>A
- Sequence
gcaacacaggaagtatcacgattt[C/A]tcttcctttttcaggctgtactca
- ASB in cell types
- GM12878 (female B-cells) primary endothelial colony-forming cells periferal blood macrophages
- ASB for transcription factors
- SPI1_HUMAN TAL1_HUMAN ELF1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| SPI1_HUMAN | 1.33 | -0.15 | 1.92 | -4.08 | Concordant | |||
| TAL1_HUMAN | -0.71 | 1.64 | 1.67 | 4.55 | Concordant | |||
| ELF1_HUMAN | 1.67 | 0.34 | 1.67 | -1.92 | Weak Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Coronary, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Testis, Thyroid, Vagina, Whole_Blood