rs75448266 chr12:6689466 A>C
- Sequence
tcagagaagagctctgcggagaga[A/C]ggcgggagcgccggaaacgaaaag
- ASB in cell types
- HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) iPSC derived NPC HepG2 (hepatoblastoma)
- ASB for transcription factors
- GABPA_HUMAN FGFR1_HUMAN SKI_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| GABPA_HUMAN | 2.02 | -0.06 | 1.43 | -0.49 | Weak Concordant | |||
| FGFR1_HUMAN | 2.42 | -1.96 | 1.00 | n/a | n/a | |||
| SKI_HUMAN | -1.29 | 2.05 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Muscle_Skeletal, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Whole_Blood