rs2241107 chr1:156212919 T>C
- Sequence
cctgctcggtgacagacgttctac[T/C]gcttccaatcggaggcacccttcg
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells) hMADS-3 (adipose-derived stem cells)
- ASB for transcription factors
- FOXK2_HUMAN NRF1_HUMAN PKNX1_HUMAN HDAC1_HUMAN
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-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| FOXK2_HUMAN | 1.27 | 2.44 | 1.78 | n/a | n/a | |||
| NRF1_HUMAN | 2.07 | -2.93 | 2.00 | n/a | No Hit | |||
| PKNX1_HUMAN | 0.25 | n/a | 2.00 | n/a | No Hit | |||
| HDAC1_HUMAN | 1.43 | -0.36 | 2.00 | n/a | n/a | |||
| KLF11_HUMAN | 1.57 | -0.14 | 1.00 | n/a | n/a |
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Motif analysis
No data available
Genetic associations
GRASP bipolar disorder, cerebral white matter hyperintensities burden, chronic kidney disease, cystatin c in serum, height, infant head circumference, ldl cholesterol, parkinsons disease, salmonella-induced pyroptosis, serum creatinine, total cholesterol, waist hip ratio
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Artery_Tibial, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Whole_Blood