rs5992957 chr22:18001877 C>A
- Sequence
ccggtgggcatatcaaagcctgcc[C/A]ccggagagaagagaggatgtattt
- ASB in cell types
- K562 (myelogenous leukemia) esophagus muscularis mucosa gastroesophageal sphincter upper lobe of left lung
- ASB for transcription factors
- PKNX1_HUMAN CTCF_HUMAN NDF1_HUMAN PBX2_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 | |
|---|---|---|---|---|---|---|---|---|
| PKNX1_HUMAN | n/a | 1.59 | 1.50 | n/a | No Hit | |||
| CTCF_HUMAN | 1.19 | 0.06 | 1.34 | 3.37 | Discordant | |||
| NDF1_HUMAN | 2.04 | -1.95 | 1.33 | n/a | No Hit | |||
| PBX2_HUMAN | -2.20 | 1.98 | 1.50 | n/a | No Hit | |||
| EGR1_HUMAN | 1.43 | -0.07 | 1.17 | n/a | No Hit |
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Motif analysis
Genetic associations
GTEx eQTL Cells_Cultured_fibroblasts, Lung, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood