rs12591585 chr15:90249442 A>G
- Sequence
aacgctgtctcccccacccaaggt[A/G]gcctcggcccgcgcccaagtgggt
- ASB in cell types
- HEK293 (embryonic kidney) HepG2 (hepatoblastoma) K562 (myelogenous leukemia) hTERT-HME1(Telomerase immortalized cell line)
- ASB for transcription factors
- RFX1_HUMAN BRCA2_HUMAN NFIC_HUMAN SP1_HUMAN
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-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 | |
|---|---|---|---|---|---|---|---|---|
| RFX1_HUMAN | 1.28 | -2.64 | 3.50 | -1.28 | Weak Concordant | |||
| BRCA2_HUMAN | -1.73 | 2.43 | 1.00 | n/a | n/a | |||
| NFIC_HUMAN | 1.82 | n/a | 2.00 | n/a | No Hit | |||
| SP1_HUMAN | 2.15 | 0.18 | 1.50 | 1.25 | Weak Discordant | |||
| RBM25_HUMAN | -0.13 | 2.32 | 2.00 | n/a | n/a |
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Motif analysis
Genetic associations
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_Frontal_Cortex_BA9, Brain_Spinal_cord_cervical_c-1, 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, 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