rs12616832 chr2:38514820 C>T
- Sequence
aaccacagctcactgcagccttga[C/T]ctcccaggctcaagtaatcctccc
- ASB in cell types
- MCF7 (Invasive ductal breast carcinoma) MCF7L-P(immortalized breast epithelial cell line) CTV-1 (Adult T acute lymphoblastic leukemia) K562 (myelogenous leukemia)
- ASB for transcription factors
- ESR1_HUMAN SMCA4_HUMAN ZBT17_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 | |
|---|---|---|---|---|---|---|---|---|
| ESR1_HUMAN | 1.97 | 0.36 | 1.61 | -4.87 | Concordant | |||
| SMCA4_HUMAN | 0.12 | 2.29 | 2.50 | n/a | n/a | |||
| ZBT17_HUMAN | -1.94 | 2.72 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adrenal_Gland, Artery_Aorta, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial