rs3806398 chr1:44775702 G>A
- Sequence
aggagtccagacgccccgaccccc[G/A]gccagggacagccacgaggagtgg
- ASB in cell types
- HEK293 (embryonic kidney) K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) CD14+ monocytes
- ASB for transcription factors
- KLF9_HUMAN ARNT_HUMAN STAT1_HUMAN RBBP5_HUMAN
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-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| KLF9_HUMAN | -5.59 | 3.26 | 2.00 | -0.25 | Weak Discordant | |||
| ARNT_HUMAN | 0.24 | 1.93 | 1.20 | n/a | No Hit | |||
| STAT1_HUMAN | 1.60 | 0.07 | 1.67 | n/a | No Hit | |||
| RBBP5_HUMAN | 1.13 | -0.08 | 1.75 | n/a | n/a | |||
| SP3_HUMAN | -1.74 | 2.67 | 2.00 | -0.89 | Weak Discordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Testis, Thyroid