rs16982311 chr19:48838931 C>T
- Sequence
ccctcataccgcccacatgcatta[C/T]gggatttgtagtccactcgcgcgt
- ASB in cell types
- WA09 (embryonic stem cells) MOLT-4 (Adult T acute lymphoblastic leukemia) GM12878 (female B-cells lymphoblastoid cell line) HEK293 (embryonic kidney)
- ASB for transcription factors
- ZN143_HUMAN CDK9_HUMAN MEF2B_HUMAN ZNF76_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 | |
|---|---|---|---|---|---|---|---|---|
| ZN143_HUMAN | n/a | 4.46 | 1.33 | 2.32 | Concordant | |||
| CDK9_HUMAN | n/a | 3.40 | 1.00 | n/a | n/a | |||
| MEF2B_HUMAN | -2.92 | 2.81 | 1.00 | n/a | No Hit | |||
| ZNF76_HUMAN | n/a | 3.15 | 1.33 | 4.81 | Concordant |
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Motif analysis
Genetic associations
GRASP birth weight, eye color, hdl cholesterol, ldl cholesterol, neuroblastoma (brain cancer), schizophrenia, spine bone mineral density (bmd), systolic blood pressure (sbp)
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Caudate_basal_ganglia, Brain_Nucleus_accumbens_basal_ganglia, Brain_Putamen_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, Liver, Lung, Muscle_Skeletal, Nerve_Tibial, Ovary, Pancreas, Pituitary, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Stomach, Testis, Thyroid, Vagina, Whole_Blood