rs2280283 chr4:151099625 C>T
- Sequence
taagttctcgcgcgactcccactt[C/T]cgcccttttggctctctgaccagc
- ASB in cell types
- foreskin keratinocyte HepG2 (hepatoblastoma) K562 (myelogenous leukemia)
- ASB for transcription factors
- CTCF_HUMAN GABPA_HUMAN ETV5_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | 0.78 | 0.10 | 1.95 | n/a | No Hit | |||
| GABPA_HUMAN | 1.12 | 1.17 | 1.35 | -7.48 | Discordant | |||
| ETV5_HUMAN | 1.70 | -1.94 | 1.33 | -3.88 | Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cortex, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Sun_Exposed_Lower_leg, Spleen, Thyroid, Whole_Blood