rs11169481 chr12:50532702 C>A
- Sequence
gaagatgagtaagagtaggtgaga[C/A]aagaggtctctagtctcagctggg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) K562 (myelogenous leukemia) Th1-cells HEK293 (embryonic kidney)
- ASB for transcription factors
- TBX21_HUMAN IKZF1_HUMAN IKZF2_HUMAN MEF2B_HUMAN
View in PheLiGe Color scale
-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 | |
|---|---|---|---|---|---|---|---|---|
| TBX21_HUMAN | -0.75 | 2.53 | 1.00 | 1.69 | Weak Concordant | |||
| IKZF1_HUMAN | 0.35 | 1.22 | 1.62 | n/a | No Hit | |||
| IKZF2_HUMAN | -1.03 | 1.10 | 1.00 | n/a | n/a | |||
| MEF2B_HUMAN | -1.88 | 2.27 | 1.00 | n/a | No Hit | |||
| COT1_HUMAN | 0.01 | 1.97 | 1.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP aortic valve calcium, homa-b, ldl cholesterol, recurrent early onset major depressive disorder, recurrent early onset major depressive disorder (females)
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Esophagus_Mucosa, Heart_Atrial_Appendage, Lung, Muscle_Skeletal, Nerve_Tibial, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood