rs263458 chr1:86774394 A>G
- Sequence
ctctgattgactcctagctatctc[A/G]tgcccccgcttcctgctggcagaa
- ASB in cell types
- HEK293 (embryonic kidney) K562 (myelogenous leukemia) macrophages CD14+ monocytes
- ASB for transcription factors
- EGR1_HUMAN STAT1_HUMAN KDM1A_HUMAN SOX13_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 | |
|---|---|---|---|---|---|---|---|---|
| EGR1_HUMAN | 2.49 | -1.14 | 2.00 | -3.14 | Concordant | |||
| STAT1_HUMAN | 0.97 | -3.61 | 2.50 | n/a | No Hit | |||
| KDM1A_HUMAN | 2.12 | n/a | 2.00 | n/a | n/a | |||
| SOX13_HUMAN | -2.03 | 1.95 | 1.33 | n/a | n/a | |||
| CEBPB_HUMAN | 1.18 | 0.65 | 1.69 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid