rs3751032 chr11:130916617 G>C
- Sequence
gcgaggtagtctctgagcctgagc[G/C]tgagcctgagcgcgcacggggcgc
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) MOLM-13(acute monocytic leukemia(AML), Homo sapiens) GBM39 (Human brain tumor) thymus-derived CD34- cells
- ASB for transcription factors
- SMCA5_HUMAN HIF3A_HUMAN BC11B_HUMAN SMC3_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| SMCA5_HUMAN | -1.65 | 1.65 | 1.00 | n/a | n/a | |||
| HIF3A_HUMAN | 2.79 | n/a | 2.00 | -3.26 | Concordant | |||
| BC11B_HUMAN | -5.08 | 3.00 | 2.00 | n/a | n/a | |||
| SMC3_HUMAN | -0.03 | 1.86 | 1.70 | n/a | n/a | |||
| STAT1_HUMAN | 0.86 | 1.74 | 1.80 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Muscle_Skeletal, Skin_Not_Sun_Exposed_Suprapubic, Testis, Thyroid, Whole_Blood