rs372225 chr9:125261770 A>G

Sequence
cccgggcggaactacagctcccag[A/G]ggcccccgcggcgctgcgcacgcg
ASB in cell types
fetal bone marrow-derived mononuclear cells adult erythroblasts HeLa (cervical adenocarcinoma) erythroid cells
ASB for transcription factors
HCFC1_HUMAN ZN143_HUMAN KMT2A_HUMAN CTCFL_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
HCFC1_HUMAN 0.90 1.28 4.5·10-60.89 2.50 n/a n/a
ZN143_HUMAN 1.10 -2.28 6.5·10-41.00 1.33 -1.18 Weak Concordant
KMT2A_HUMAN 0.20 3.20 1.001.2·10-3 1.25 0.91 Weak Concordant
CTCFL_HUMAN -0.79 2.24 1.008.3·10-3 2.00 1.39 Weak Concordant
INT11_HUMAN 1.09 1.72 1.000.02 1.00 n/a n/a
Items per page:
1 – 5 of 7

Motif analysis

KMT2A_HUMAN Weak Concordant
KMT2A_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Coronary,  Artery_Tibial,  Brain_Cerebellar_Hemisphere,  Brain_Cerebellum,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Spleen,  Testis,  Thyroid,  Whole_Blood

Download