rs1864741 chr17:3712980 T>G
- Sequence
ccacagttcagtaaaatggccaga[T/G]aagataaacattcaaaaccaccaa
- ASB in cell types
- Jurkat (T-cells) CD34+ hematopoietic stem cells-derived proerythroblasts TF-1 (erythroleukemia)
- ASB for transcription factors
- GATA1_HUMAN KDM6A_HUMAN SMC3_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| GATA1_HUMAN | 2.98 | n/a | 2.00 | -0.03 | Weak Concordant | |||
| KDM6A_HUMAN | 3.20 | -4.75 | 1.33 | n/a | n/a | |||
| SMC3_HUMAN | 2.49 | -2.03 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Heart_Atrial_Appendage, Muscle_Skeletal, Skin_Sun_Exposed_Lower_leg, Testis