rs749579 chr2:86221285 A>G
- Sequence
tgtgctccccaacagccagcagga[A/G]gcagcacaacatgcaaagctgaat
- ASB in cell types
- Peyer's patch adrenal gland bipolar neuron neural cell
- ASB for transcription factors
- CTCF_HUMAN RAD21_HUMAN SMC3_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (A) 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 | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 0.15 | 2.40 | 1.83 | 5.38 | Concordant | |||
| RAD21_HUMAN | 1.07 | 2.41 | 1.47 | n/a | n/a | |||
| SMC3_HUMAN | n/a | 1.85 | 1.78 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP college completion, ldl cholesterol, obesity with early age of onset (age >2), rheumatoid arthritis, waist hip ratio
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Hypothalamus, Brain_Nucleus_accumbens_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, 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, Testis, Thyroid, Uterus, Whole_Blood