rs6547638 chr2:85873888 T>C

Sequence
cctggtggtaggtccaggtgagga[T/C]gctgactgtgcatgttaaccaagt
ASB in cell types
MS-1 (Small cell lung carcinoma) EOL-1 (Acute myeloid leukemia) MCF7L-P(immortalized breast epithelial cell line) HCT-116 (colon carcinoma)
ASB for transcription factors
CTCF_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (T) 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
CTCF_HUMAN -0.22 1.57 1.007.8·10-29 1.42 2.50 Concordant
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GRASP chronic kidney disease cystatin c in serum
GTEx eQTL Adipose_Subcutaneous Adrenal_Gland Artery_Aorta Artery_Tibial Brain_Caudate_basal_ganglia Brain_Spinal_cord_cervical_c-1 Esophagus_Gastroesophageal_Junction Esophagus_Muscularis Nerve_Tibial Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Testis Thyroid Whole_Blood

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