rs1379610 chr12:53287899 A>G

Sequence
atggtgcctgatggtgcctccact[A/G]cgccacctgctgtcacaaggtgtc
ASB in cell types
K562 (myelogenous leukemia) HT1080 (fibrosarcoma) GM12878 (female B-cells lymphoblastoid cell line) HCT-116-RAD21-mAC
ASB for transcription factors
CTCF_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 0.28 1.35 1.002.9·10-14 1.48 2.93 Concordant
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Adipose_Visceral_Omentum,  Artery_Aorta,  Artery_Tibial,  Brain_Caudate_basal_ganglia,  Brain_Cortex,  Brain_Hypothalamus,  Brain_Nucleus_accumbens_basal_ganglia,  Brain_Putamen_basal_ganglia,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Mucosa,  Esophagus_Muscularis,  Kidney_Cortex,  Liver,  Muscle_Skeletal,  Nerve_Tibial,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Small_Intestine_Terminal_Ileum,  Spleen,  Testis,  Thyroid,  Vagina,  Whole_Blood

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