rs73106145 chr12:50167576 G>C
- Sequence
ctgactcgcccagcccggccctgg[G/C]accacgcctcgggcggccctgggc
- ASB in cell types
- K562 (myelogenous leukemia) HEK293 (embryonic kidney) HEK293T (embryonic kidney) neural cell
- ASB for transcription factors
- NFIC_HUMAN MNT_HUMAN CTCF_HUMAN GABP1_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 | |
|---|---|---|---|---|---|---|---|---|
| NFIC_HUMAN | n/a | 3.41 | 2.00 | 2.97 | Concordant | |||
| MNT_HUMAN | -1.63 | 2.05 | 2.00 | n/a | n/a | |||
| CTCF_HUMAN | 0.64 | 0.68 | 1.18 | n/a | No Hit | |||
| GABP1_HUMAN | -1.77 | 2.19 | 2.00 | n/a | n/a | |||
| ESR1_HUMAN | 1.44 | n/a | 2.50 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Nucleus_accumbens_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Breast_Mammary_Tissue, 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, Testis, Thyroid, Whole_Blood