rs1001179 chr11:34438684 C>T
- Sequence
gagccccgccctgggttcggctat[C/T]ccgggcaccccgggccggcggggc
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) breast tumor
- ASB for transcription factors
- MEF2D_HUMAN IKZF1_HUMAN ESR1_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 | |
|---|---|---|---|---|---|---|---|---|
| MEF2D_HUMAN | -2.94 | 3.18 | 1.00 | 4.30 | Concordant | |||
| IKZF1_HUMAN | 1.47 | -0.23 | 1.50 | n/a | n/a | |||
| ESR1_HUMAN | 2.02 | -4.71 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP diastolic blood pressure (dbp), hdl cholesterol, ldl cholesterol change with statins, triglycerides, variant creutzfeldt-jakob disease
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellum, Brain_Cortex, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood