rs228771 chr17:44006729 C>G
- Sequence
caagggtgagggcggtgggcgggc[C/G]ggggactgggtcccgggagtgagt
- ASB in cell types
- HEK293 (embryonic kidney) HCASMC (Human coronary artery smooth muscle cells)
- ASB for transcription factors
- SP2_HUMAN ZN341_HUMAN TCF21_HUMAN SP5_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| SP2_HUMAN | 2.09 | n/a | 1.50 | -2.18 | Concordant | |||
| ZN341_HUMAN | 1.45 | n/a | 2.00 | 3.12 | Discordant | |||
| TCF21_HUMAN | 2.21 | -4.44 | 2.00 | n/a | n/a | |||
| SP5_HUMAN | 2.24 | -1.58 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood