rs2114850 chr12:9219086 A>G

Sequence
aagttaagctctccctgtttgcga[A/G]tgatatgattctatatctagaaaa
ASB in cell types
iPSC (induced pluripotent stem cells)
ASB for transcription factors
DUX4_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
DUX4_HUMAN 2.17 n/a 0.051.00 1.00 n/a No Hit
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Motif analysis

No data available

Genetic associations

GRASP height,  ldl cholesterol change with statins,  total cholesterol change with statins
GTEx eQTL Adipose_Subcutaneous,  Adrenal_Gland,  Artery_Tibial,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Breast_Mammary_Tissue,  Colon_Sigmoid,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Liver,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pancreas,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Testis,  Thyroid,  Whole_Blood

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