rs6544939 chr2:46916091 G>T
- Sequence
agccctcaggaacgtagttccacg[G/T]gcgacgtaggatggcggatccgga
- ASB in cell types
- NCI-H2171 (small cell lung carcinoma) 22RV1 (prostate carcinoma) LA-N-5 (Neuroblastoma. Derived from metastatic site: Bone marrow)
- ASB for transcription factors
- MAX_HUMAN MYC_HUMAN ANDR_HUMAN MYCN_HUMAN
View in PheLiGe Color scale
-log10 FDR of Ref (G) 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 | |
|---|---|---|---|---|---|---|---|---|
| MAX_HUMAN | -0.46 | 2.24 | 1.18 | 6.51 | Concordant | |||
| MYC_HUMAN | -1.24 | 2.19 | 1.20 | 6.07 | Concordant | |||
| ANDR_HUMAN | 2.89 | 0.88 | 2.00 | n/a | No Hit | |||
| MYCN_HUMAN | -2.11 | 2.60 | 1.00 | 5.96 | Concordant | |||
| MXI1_HUMAN | n/a | 1.07 | 2.00 | 4.64 | Concordant |
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Motif analysis
Genetic associations
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, Lung, Muscle_Skeletal, Nerve_Tibial, Pancreas, Pituitary, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Testis, Thyroid, Whole_Blood