rs11264431 chr1:156053011 C>T
- Sequence
ccccgcctatgtgaaattatggag[C/T]ggccacagggggtggcgaacacag
- ASB in cell types
- HEK293 (embryonic kidney) K562 (myelogenous leukemia) foreskin keratinocyte GM12878 (female B-cells)
- ASB for transcription factors
- CTCF_HUMAN SP2_HUMAN ZN629_HUMAN
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-log10 FDR of Ref (C) ASB
-log10 FDR of Alt (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 0.52 | 1.03 | 1.39 | 0.14 | Weak Concordant | |||
| SP2_HUMAN | -3.09 | 2.32 | 2.00 | n/a | No Hit | |||
| ZN629_HUMAN | -1.86 | 2.10 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP birth weight, body mass index (bmi), cystatin c in serum, diastolic blood pressure (dbp), hdl cholesterol, serum creatinine, systolic blood pressure (sbp)
GTEx eQTL Adipose_Subcutaneous, Artery_Aorta, Brain_Cerebellar_Hemisphere, Cells_Cultured_fibroblasts, Colon_Transverse, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Testis, Thyroid, Whole_Blood