rs2161672 chr16:68470759 A>G
- Sequence
gtgatggctgaggctcccccagct[A/G]cagagctttaggggaagttcagtt
- ASB in cell types
- GEN2.2 (blastic plasmacytoid dendritic cell neoplasm) GM18486 (Lymphoblastoid Cell Lines) CTV-1 (Adult T acute lymphoblastic leukemia) ICN12 (primary pre-B acute lymphomablastic leukemia)
- ASB for transcription factors
- ITF2_HUMAN STAG1_HUMAN CTCF_HUMAN ETS1_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 | |
|---|---|---|---|---|---|---|---|---|
| ITF2_HUMAN | n/a | 3.60 | 2.00 | 6.47 | Concordant | |||
| STAG1_HUMAN | 0.37 | 1.45 | 1.15 | n/a | n/a | |||
| CTCF_HUMAN | 0.60 | 1.11 | 1.10 | 4.13 | Concordant | |||
| ETS1_HUMAN | -1.56 | 1.95 | 1.00 | n/a | No Hit | |||
| PBX1_HUMAN | n/a | 2.58 | 3.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellum, Brain_Hippocampus, Cells_Cultured_fibroblasts, Colon_Sigmoid, Lung, Muscle_Skeletal, Nerve_Tibial, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood