rs77804600 chr1:2391602 T>C
- Sequence
attggtctttgtcgcaaggggggg[T/C]gtggccacgggcctagtccctgag
- ASB in cell types
- HEK293 (embryonic kidney) CD34+ hematopoietic stem cells-derived proerythroblasts CD14+ monocytes HEK293T (embryonic kidney)
- ASB for transcription factors
- GATA1_HUMAN SP3_HUMAN STAT1_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) 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 | 2.09 | 0.65 | 1.83 | n/a | No Hit | |||
| SP3_HUMAN | 2.87 | n/a | 2.00 | 4.21 | Discordant | |||
| STAT1_HUMAN | 1.96 | -3.87 | 2.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellum, Brain_Nucleus_accumbens_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood