rs13960 chr19:3762700 C>T
- Sequence
acttgcaagctgcccgcaatacgt[C/T]atggcgaccaaacgccttttcggg
- ASB in cell types
- HepG2 (hepatoblastoma) GM12878 (female B-cells lymphoblastoid cell line) brain prefrontal cortex region tissues keratinocytes
- ASB for transcription factors
- ATF2_HUMAN ATF7_HUMAN CREB1_HUMAN TYY1_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 | |
|---|---|---|---|---|---|---|---|---|
| ATF2_HUMAN | 3.98 | -2.83 | 1.25 | n/a | No Hit | |||
| ATF7_HUMAN | 2.40 | -3.05 | 1.33 | n/a | n/a | |||
| CREB1_HUMAN | 1.16 | -0.17 | 1.96 | -5.88 | Concordant | |||
| TYY1_HUMAN | 0.07 | 2.52 | 1.48 | -0.60 | Weak Discordant | |||
| SRF_HUMAN | 0.89 | -0.20 | 1.38 | n/a | No Hit |
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Motif analysis
Genetic associations
GRASP height, late onset alzheimers disease, longstanding arthritis, lung cancer, sporadic creutzfeldt-jakob disease
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Spinal_cord_cervical_c-1, 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, 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, Vagina, Whole_Blood