rs7247767 chr19:18282103 A>G

Sequence
cgcctcctgctctgctgtgccgcc[A/G]gggcctcccctagcgcgccttctg
ASB in cell types
GM19239 (male B-cells lymphoblastoid cell line) HL-60 (acute myeloid leukemia) breast tumor GBM39 (Human brain tumor)
ASB for transcription factors
CTCF_HUMAN ESR1_HUMAN STAG1_HUMAN INT13_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (A) ASB
color scale alt
-log10 FDR of Alt (G) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN 2.76 -0.05 1.8·10-201.00 1.50 n/a No Hit
ESR1_HUMAN 3.43 -0.39 2.1·10-41.00 1.83 n/a No Hit
STAG1_HUMAN 2.28 0.00 1.6·10-31.00 1.20 n/a n/a
INT13_HUMAN 1.40 0.77 1.6·10-31.00 1.00 n/a n/a
STAT1_HUMAN 2.17 -0.13 4.1·10-31.00 2.40 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_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,  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,  Ovary,  Pancreas,  Pituitary,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Stomach,  Thyroid,  Uterus,  Vagina,  Whole_Blood

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