rs62241211 chr22:50304182 C>A
- Sequence
gccagccccaggctcctccccaga[C/A]agacatccccgggggtggggcaaa
- ASB in cell types
- HEK293 (embryonic kidney) GM02630 (Fanconi anemi)
- ASB for transcription factors
- PATZ1_HUMAN GLIS1_HUMAN SCRT2_HUMAN ZN366_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 | |
|---|---|---|---|---|---|---|---|---|
| PATZ1_HUMAN | 2.95 | n/a | 2.00 | n/a | No Hit | |||
| GLIS1_HUMAN | 2.12 | n/a | 2.00 | 1.37 | Weak Discordant | |||
| SCRT2_HUMAN | 2.74 | -4.97 | 2.00 | n/a | No Hit | |||
| ZN366_HUMAN | 2.84 | n/a | 2.00 | n/a | n/a | |||
| SP2_HUMAN | 1.59 | n/a | 2.00 | -1.25 | Weak Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, 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