rs117476389 chr21:36990170 A>G

Sequence
gccccgacttacttctgaggccga[A/G]acgcggccgctcctgcgccgggtg
ASB in cell types
foreskin keratinocyte GM12878 (female B-cells lymphoblastoid cell line) transverse colon BEAS-2B (bronchial epithelium)
ASB for transcription factors
CTCF_HUMAN GCR_HUMAN STAG1_HUMAN KDM2B_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 1.20 0.39 1.6·10-191.00 1.32 n/a No Hit
GCR_HUMAN 1.29 0.61 4.1·10-41.00 1.00 n/a No Hit
STAG1_HUMAN 1.10 -0.10 1.6·10-31.00 1.08 n/a n/a
KDM2B_HUMAN 1.63 -0.71 2.7·10-31.00 1.00 n/a n/a
KDM6A_HUMAN 2.32 n/a 0.031.00 3.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cortex,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Transverse,  Esophagus_Mucosa,  Esophagus_Muscularis,  Lung,  Nerve_Tibial,  Pancreas,  Prostate,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Vagina,  Whole_Blood

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