rs11702306 chr21:32393251 C>T
- Sequence
ggcgagcggacactccacgacacc[C/T]cccgcccccggctgcagggtttgg
- ASB in cell types
- MOLT-4 (Adult T acute lymphoblastic leukemia) 22RV1 (prostate carcinoma) GM02255 (Lymphoblastoid Cell Lines) T47D (invasive ductal carcinoma)
- ASB for transcription factors
- SPT5H_HUMAN CTCF_HUMAN ANDR_HUMAN ESR1_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 | |
|---|---|---|---|---|---|---|---|---|
| SPT5H_HUMAN | -3.96 | 1.94 | 2.00 | n/a | n/a | |||
| CTCF_HUMAN | -0.58 | 2.00 | 1.08 | 0.05 | Weak Concordant | |||
| ANDR_HUMAN | 2.87 | 0.80 | 1.62 | n/a | No Hit | |||
| ESR1_HUMAN | 2.26 | -1.05 | 2.50 | n/a | No Hit | |||
| SP130_HUMAN | -1.95 | 2.39 | 1.00 | n/a | n/a |
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Motif analysis
Genetic associations
GRASP comorbid depressive syndrome and alcohol dependence, cystatin c in serum, infant head circumference, parkinsons disease, premature ovarian failure, primary rhegmatogenous retinal detachment, refractive error, rheumatoid arthritis
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Tibial, Brain_Amygdala, Brain_Caudate_basal_ganglia, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, Brain_Putamen_basal_ganglia, 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, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Stomach, Testis, Thyroid, Whole_Blood