rs594597 chr19:48875260 A>G
- Sequence
cccagattcttgagtcttagaaag[A/G]aagggggctgggggccgagacttc
- ASB in cell types
- HEK293 (embryonic kidney) GM12878 (female B-cells) ICN12 (primary pre-B acute lymphomablastic leukemia)
- ASB for transcription factors
- SPI1_HUMAN TYY2_HUMAN PBX1_HUMAN ELF1_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 | |
|---|---|---|---|---|---|---|---|---|
| SPI1_HUMAN | n/a | 2.48 | 2.50 | 3.82 | Concordant | |||
| TYY2_HUMAN | n/a | 2.57 | 2.00 | n/a | n/a | |||
| PBX1_HUMAN | -1.59 | 1.88 | 1.33 | n/a | No Hit | |||
| ELF1_HUMAN | -1.97 | 1.79 | 1.33 | 3.63 | Concordant | |||
| ZSC21_HUMAN | n/a | 2.51 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood