rs301807 chr1:8424763 A>G
- Sequence
cagaggaacaaagggtggtgggtg[A/G]agctaggaagaggaagcaacttac
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) monocyte-derived macrophages from peripheral blood
- ASB for transcription factors
- ZN316_HUMAN SPI1_HUMAN FOXK2_HUMAN IKZF1_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| ZN316_HUMAN | -2.64 | 2.27 | 1.00 | n/a | n/a | |||
| SPI1_HUMAN | -0.29 | 2.04 | 1.47 | n/a | No Hit | |||
| FOXK2_HUMAN | -0.57 | 2.45 | 1.25 | n/a | n/a | |||
| IKZF1_HUMAN | -0.36 | 1.35 | 1.29 | n/a | No Hit | |||
| CTBP1_HUMAN | -0.70 | 2.69 | 1.50 | n/a | n/a |
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Motif analysis
Genetic associations
EMBL-EBI depression, smoking initiation (ever regular vs never regular), smoking initiation (ever regular vs never regular) (mtag), sum eosinophil basophil counts, vitiligo
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Hippocampus, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Thyroid, Whole_Blood