rs4808784 chr19:18340851 C>T

Sequence
aggtgtcatcacccgcgggagccc[C/T]gcgcagcccaggcttcctggaaag
ASB in cell types
HEK293 (embryonic kidney) 22RV1 (prostate carcinoma)
ASB for transcription factors
RFOX2_HUMAN KMT2A_HUMAN ANDR_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) ASB
color scale alt
-log10 FDR of Alt (T) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
RFOX2_HUMAN -1.10 1.74 1.000.02 1.00 n/a n/a
KMT2A_HUMAN -2.34 2.45 1.000.03 1.00 -0.12 Weak Discordant
ANDR_HUMAN 2.60 -1.82 0.031.00 2.00 n/a No Hit
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Motif analysis

KMT2A_HUMAN Weak Discordant
KMT2A_HUMAN pic

Genetic associations

GRASP aortic valve calcium,  cystatin c in serum
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Muscularis,  Nerve_Tibial,  Thyroid,  Uterus

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