rs2101731 chr1:20575429 G>A
- Sequence
cggccccggggtccagtagggggc[G/A]cactcaccctatctcggtggaatg
- ASB in cell types
- K562 (myelogenous leukemia) GM17942 (lymphoblastoid cell) upper lobe of left lung ID00014 (lymphoblastoid cell, DiGeorge syndrome)
- ASB for transcription factors
- CTCF_HUMAN SPI1_HUMAN FOXP1_HUMAN STAG1_HUMAN
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-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.90 | 0.39 | 1.33 | -1.60 | Weak Concordant | |||
| SPI1_HUMAN | 1.14 | 1.76 | 1.50 | n/a | No Hit | |||
| FOXP1_HUMAN | 2.05 | -1.70 | 1.00 | n/a | No Hit | |||
| STAG1_HUMAN | 0.68 | -0.05 | 1.59 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Putamen_basal_ganglia, Cells_Cultured_fibroblasts, Esophagus_Gastroesophageal_Junction, Heart_Atrial_Appendage, Muscle_Skeletal, Nerve_Tibial, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Thyroid