rs12196084 chr6:27230425 A>C

Sequence
gtagtgttgggcagaatattgttt[A/C]ataaccttcgttattatttgaagc
ASB in cell types
BEAS-2B (bronchial epithelium) TTC-1240 (Rhabdoid tumor of the kidney)
ASB for transcription factors
GCR_HUMAN SMRC1_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
GCR_HUMAN 0.07 3.46 1.003.1·10-6 1.00 n/a No Hit
SMRC1_HUMAN 1.91 -0.06 1.2·10-41.00 1.00 n/a n/a
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Motif analysis

No data available

Genetic associations

GRASP height,  obesity with early age of onset (age >2),  rheumatoid arthritis
GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Anterior_cingulate_cortex_BA24,  Brain_Caudate_basal_ganglia,  Brain_Cerebellum,  Brain_Nucleus_accumbens_basal_ganglia,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Cells_EBV-transformed_lymphocytes,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Heart_Left_Ventricle,  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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