rs12614621 chr2:200306484 G>C
- Sequence
gaaaggagctagggagggcgtgtg[G/C]agggacgagatctgtgtcagaacg
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) HepG2 (hepatoblastoma) MCF7 (Invasive ductal breast carcinoma)
- ASB for transcription factors
- PKNX1_HUMAN FOXK2_HUMAN KLF1_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) ASB
-log10 FDR of Alt (C) 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 | -0.56 | 1.43 | 1.33 | n/a | No Hit | |||
| FOXK2_HUMAN | 0.02 | 2.17 | 1.50 | n/a | No Hit | |||
| KLF1_HUMAN | -1.56 | 1.86 | 1.00 | 1.08 | Weak Concordant |
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Motif analysis
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Tibial, Brain_Cortex, Cells_Cultured_fibroblasts, Esophagus_Gastroesophageal_Junction, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Lung, Muscle_Skeletal, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood