rs224575 chr12:51025838 T>C
- Sequence
cgctccctgaagtcggttaggtta[T/C]aatgagtcttttgttgaagcgggg
- ASB in cell types
- Ishikawa (endometrial adenocarcinoma) K562 (myelogenous leukemia) primary B-CLL cells GM12878 (female B-cells lymphoblastoid cell line)
- ASB for transcription factors
- BRD4_HUMAN ESR1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| BRD4_HUMAN | 0.34 | 1.36 | 1.33 | n/a | n/a | |||
| ESR1_HUMAN | 0.13 | 1.20 | 1.52 | 0.63 | Weak Concordant |
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Motif analysis
Genetic associations
GRASP bipolar disorder, hypertension (early onset hypertension), sporadic creutzfeldt-jakob disease, total cholesterol, triglycerides
GTEx eQTL Adipose_Subcutaneous, Artery_Tibial, Brain_Cerebellum, Cells_Cultured_fibroblasts, Colon_Sigmoid, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Muscle_Skeletal, Nerve_Tibial, Ovary, Skin_Not_Sun_Exposed_Suprapubic, Testis, Thyroid