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
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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

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