rs2579968 chr2:42183965 G>C
- Sequence
ccaccaggatgaggtcacctcttt[G/C]accttctggccctctttctttccg
- ASB in cell types
- GM12878 (female B-cells) K562 (myelogenous leukemia)
- ASB for transcription factors
- COT1_HUMAN ATF3_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| COT1_HUMAN | 1.33 | -1.60 | 1.33 | -3.76 | Concordant | |||
| ATF3_HUMAN | 2.29 | -1.98 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP 2 hour glucose, body mass index (bmi), diastolic blood pressure (dbp), fasting blood glucose, systolic blood pressure (sbp), waist hip ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cortex, Brain_Frontal_Cortex_BA9, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Mucosa, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid