rs216145 chr5:150066032 A>G
- Sequence
attggagctgctcagagaaggaac[A/G]ggtggccccgagagtgagtaaggt
- ASB in cell types
- ICN12 (primary pre-B acute lymphomablastic leukemia) CD14+ monocytes
- ASB for transcription factors
- TFE2_HUMAN STAT1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| TFE2_HUMAN | 1.98 | -3.31 | 1.33 | -4.21 | Concordant | |||
| STAT1_HUMAN | -0.85 | 2.25 | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP abnormal involuntary movement scale, response to anti-tumor necrosis factor treatment of rheumatoid arthritis
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Muscle_Skeletal, Nerve_Tibial, Pancreas, Spleen, Stomach, Testis, Thyroid, Whole_Blood