rs7297749 chr12:113221947 T>C
- Sequence
cctcgctcttctccctggcgccct[T/C]aggtgaccccacaggagtcttgtg
- ASB in cell types
- GM02630 (Fanconi anemi) GM18486 (Lymphoblastoid Cell Lines) GM02255 (Lymphoblastoid Cell Lines) GM12891 (male B- cells lymphoblastoid cell line)
- ASB for transcription factors
- CTCF_HUMAN STAG1_HUMAN ZN768_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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | -0.36 | 3.47 | 1.28 | 4.27 | Concordant | |||
| STAG1_HUMAN | 0.13 | 1.93 | 1.06 | n/a | n/a | |||
| ZN768_HUMAN | -1.93 | 2.32 | 1.00 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP body mass index (bmi), cystatin c in serum, diastolic blood pressure (dbp), fasting blood glucose, hdl cholesterol, infant head circumference, parkinsons disease
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Cerebellar_Hemisphere, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Minor_Salivary_Gland, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Thyroid, Uterus, Whole_Blood