rs7417106 chr1:976215 A>G
- Sequence
ctgtggctgcggcgcccttgcccc[A/G]cctgccggcggaagtagcggatgg
- ASB in cell types
- HEK293 (embryonic kidney) upper lobe of left lung pancreas GM19238 (female B-cells lymphoblastoid cell lines)
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN ERG_HUMAN STAG1_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.66 | 0.08 | 1.52 | -2.10 | Concordant | |||
| RAD21_HUMAN | 1.86 | -0.47 | 1.33 | n/a | n/a | |||
| ERG_HUMAN | -3.30 | 2.50 | 1.33 | n/a | No Hit | |||
| STAG1_HUMAN | 0.73 | n/a | 2.90 | n/a | n/a | |||
| ZNF2_HUMAN | 3.06 | n/a | 2.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Nucleus_accumbens_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood