rs1395320 chr11:18526648 C>G
- Sequence
ctcggggcggggttctgaggaggt[C/G]gctaaggactgcaccggggcttcc
- ASB in cell types
- K562 (myelogenous leukemia) CTV-1 (Adult T acute lymphoblastic leukemia) HEK293 (embryonic kidney) HUVEC-C (HUVEC, umbilical vein endothelial cells)
- ASB for transcription factors
- GABP1_HUMAN GABPA_HUMAN MNT_HUMAN RFOX2_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| GABP1_HUMAN | 1.32 | n/a | 2.00 | n/a | n/a | |||
| GABPA_HUMAN | 2.28 | -0.03 | 1.75 | n/a | No Hit | |||
| MNT_HUMAN | 2.17 | -1.05 | 2.00 | n/a | No Hit | |||
| RFOX2_HUMAN | 2.81 | -5.04 | 2.00 | n/a | n/a | |||
| RFX1_HUMAN | 3.21 | n/a | 2.00 | -1.45 | Weak Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cortex, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood