rs2999607 chr1:148334750 C>G
- Sequence
aaaacaaccttcataacgtcctct[C/G]cgatgccaggtaattaggagttca
- ASB in cell types
- K562 (myelogenous leukemia) GM12878 (female B-cells lymphoblastoid cell line) MV-4-11 (Childhood acute monocytic leukemia) renal cortex
- ASB for transcription factors
- FOXK2_HUMAN NELFA_HUMAN BRD4_HUMAN RARA_HUMAN
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-log10 FDR of Ref (C) 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 | |
|---|---|---|---|---|---|---|---|---|
| FOXK2_HUMAN | 3.73 | -3.77 | 1.67 | n/a | No Hit | |||
| NELFA_HUMAN | 2.02 | n/a | 2.00 | n/a | n/a | |||
| BRD4_HUMAN | 1.79 | -0.01 | 2.16 | n/a | n/a | |||
| RARA_HUMAN | 1.21 | 0.62 | 1.00 | n/a | No Hit | |||
| MAF_HUMAN | 2.03 | -4.34 | 2.00 | n/a | No Hit |
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Motif analysis
No data available
Genetic associations
GTEx eQTL Adipose_Subcutaneous, Adipose_Visceral_Omentum, Adrenal_Gland, Artery_Aorta, Artery_Coronary, Artery_Tibial, Brain_Cerebellar_Hemisphere, Brain_Cerebellum, Brain_Cortex, Brain_Frontal_Cortex_BA9, 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, Prostate, Skin_Not_Sun_Exposed_Suprapubic, Skin_Sun_Exposed_Lower_leg, Small_Intestine_Terminal_Ileum, Spleen, Thyroid, Whole_Blood