rs11168454 chr12:48198574 C>G
- Sequence
ctttcattgggacatgaaagggga[C/G]tgggaagtgccgtgcagtttcagg
- ASB in cell types
- BEAS-2B (bronchial epithelium)
- ASB for transcription factors
- GCR_HUMAN SPI1_HUMAN BRD4_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| GCR_HUMAN | 1.78 | -0.68 | 1.00 | n/a | No Hit | |||
| SPI1_HUMAN | 0.46 | 1.23 | 1.38 | 2.06 | Concordant | |||
| BRD4_HUMAN | 1.21 | 0.38 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP cystatin c in serum, infant head circumference, microalbuminuria, serum creatinine, urinary albumin-to-creatinine ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Uterus, Whole_Blood