rs4760707 chr12:48454857 A>G

Sequence
tatgccagcatcttcagaccttac[A/G]gctaggacactactgcttccttgt
ASB in cell types
foreskin keratinocyte GM02630 (Fanconi anemi) ID00014 (lymphoblastoid cell, DiGeorge syndrome)
ASB for transcription factors
CTCF_HUMAN RAD21_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 1.00 0.54 3.3·10-121.00 1.36 n/a No Hit
RAD21_HUMAN 1.20 0.10 0.041.00 1.44 n/a n/a
Items per page:
1 – 2 of 2

Motif analysis

No data available

Genetic associations

GRASP neuroblastoma (brain cancer),  obesity with early age of onset (age >2),  simpson-angus scale,  tetrology of fallot,  type 2 diabetes, combined control dataset
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Colon_Transverse,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Muscle_Skeletal,  Nerve_Tibial,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Testis,  Thyroid,  Whole_Blood

Download