rs2258287 chr12:121016510 C>A
- Sequence
gcaaaggattgtggagaacaccgc[C/A]gttatcaagcctccttcatgacgt
- ASB in cell types
- CD34+ hematopoietic stem cells-derived proerythroblasts GM12878 (female B-cells lymphoblastoid cell line) HepG2 (hepatoblastoma) pancreas
- ASB for transcription factors
- GATA1_HUMAN FOXK2_HUMAN MYB_HUMAN KDM5A_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| GATA1_HUMAN | -0.21 | 3.76 | 1.83 | n/a | No Hit | |||
| FOXK2_HUMAN | 3.24 | 0.01 | 1.25 | n/a | n/a | |||
| MYB_HUMAN | 2.38 | -1.07 | 1.00 | n/a | No Hit | |||
| KDM5A_HUMAN | -2.64 | 2.86 | 1.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP bipolar disorder, coronary artery disease (cad), cystatin c in serum, gamma-glutamyl transferase (ggt), hdl cholesterol, ldl cholesterol, major depressive disorder, microalbuminuria, serum gamma-glutamyl transferase (ggt) activity (in adolescents), serum gamma-glutamyl transferase (ggt) activity (in adults), total cholesterol
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Tibial, Brain_Cerebellum, Brain_Cortex, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood