rs12056045 chr7:139340684 C>G
- Sequence
aaatagttgaatatgttgtgtgag[C/G]gcgtcgtttgcagaagccccagtg
- ASB in cell types
- K562 (myelogenous leukemia) primary B-CLL cells GM12878 (female B-cells lymphoblastoid cell line) HCASMC (Human coronary artery smooth muscle cells)
- ASB for transcription factors
- TCF21_HUMAN KLF1_HUMAN SRBP2_HUMAN KDM5B_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 | |
|---|---|---|---|---|---|---|---|---|
| TCF21_HUMAN | 2.49 | n/a | 2.00 | n/a | n/a | |||
| KLF1_HUMAN | -1.94 | 2.24 | 1.00 | 3.70 | Concordant | |||
| SRBP2_HUMAN | 2.73 | n/a | 2.00 | n/a | No Hit | |||
| KDM5B_HUMAN | -0.86 | 2.45 | 2.00 | n/a | n/a | |||
| CLOCK_HUMAN | 3.01 | n/a | 2.00 | n/a | No Hit |
Items per page:
1 – 5 of 7
Motif analysis
Genetic associations
GTEx eQTL Artery_Tibial, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid