rs453301 chr8:9172877 T>G
- Sequence
ctttctctgttgctttctcaaagg[T/G]tggtagccttccaaattcgctcat
- ASB in cell types
- K562 (myelogenous leukemia)
- ASB for transcription factors
- LMBL2_HUMAN RING2_HUMAN NFIC_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (T) 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 | |
|---|---|---|---|---|---|---|---|---|
| LMBL2_HUMAN | n/a | 3.49 | 2.00 | n/a | n/a | |||
| RING2_HUMAN | n/a | 3.12 | 2.00 | n/a | n/a | |||
| NFIC_HUMAN | n/a | 2.57 | 2.00 | -3.27 | Discordant |
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Motif analysis
Genetic associations
EMBL-EBI diastolic blood pressure x alcohol consumption interaction (2df test), joint mobility (beighton score), systolic blood pressure x alcohol consumption interaction (2df test)
GRASP body mass index (bmi), diastolic blood pressure (dbp), hdl cholesterol, height, mitral annular calcium, parkinsons disease, serum creatinine, systolic blood pressure (sbp), triglycerides
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Amygdala, Brain_Anterior_cingulate_cortex_BA24, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Hippocampus, Brain_Hypothalamus, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_basal_ganglia, Brain_Spinal_cord_cervical_c-1, Brain_Substantia_nigra, Breast_Mammary_Tissue, Cells_Cultured_fibroblasts, Cells_EBV-transformed_lymphocytes, Colon_Sigmoid, Colon_Transverse, Esophagus_Gastroesophageal_Junction, Esophagus_Mucosa, Esophagus_Muscularis, Heart_Atrial_Appendage, Heart_Left_Ventricle, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Spleen, Stomach, Testis, Thyroid, Uterus, Whole_Blood