rs17523127 chr1:235129054 C>G
- Sequence
ccgaccatgctgtaacgaggcgta[C/G]gcgttactggcgtgcacgtactca
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) K562 (myelogenous leukemia) proliferating fibroblasts MOLT-4 (Adult T acute lymphoblastic leukemia)
- ASB for transcription factors
- PKNX1_HUMAN IKZF1_HUMAN EGR1_HUMAN SNF5_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| PKNX1_HUMAN | -0.55 | 1.75 | 1.75 | n/a | No Hit | |||
| IKZF1_HUMAN | 0.50 | 0.84 | 2.00 | n/a | n/a | |||
| EGR1_HUMAN | n/a | 1.65 | 2.33 | 4.48 | Concordant | |||
| SNF5_HUMAN | 1.73 | -0.47 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Artery_Tibial, Brain_Cerebellum, Cells_Cultured_fibroblasts, Nerve_Tibial, Skin_Sun_Exposed_Lower_leg, Testis