rs5769126 chr22:46739308 A>C
- Sequence
ctgctgtgcctggcaccaggtggc[A/C]gcatatacaggtcttaccctgcca
- ASB in cell types
- pancreas transverse colon SUM159PT (Triple negative breast cancer) NCI-H2171 (small cell lung carcinoma)
- ASB for transcription factors
- CTCF_HUMAN MYC_HUMAN MAX_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 2.95 | -0.95 | 1.65 | -4.28 | Concordant | |||
| MYC_HUMAN | 2.70 | -0.43 | 1.25 | n/a | No Hit | |||
| MAX_HUMAN | 1.29 | -0.28 | 1.25 | 1.77 | Weak Discordant |
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Motif analysis
Genetic associations
GRASP aortic valve calcium, fasting insulin, homa-b, homa-ir, ldl cholesterol change with statins, total cholesterol change with statins
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Cortex, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Stomach, Thyroid, Whole_Blood