rs2796552 chr10:42866850 A>G

Sequence
tccacgcagtagccacgaggtggc[A/G]ccgcagactcgctaccgcggagcg
ASB in cell types
MCF7 (Invasive ductal breast carcinoma) T47D (invasive ductal carcinoma) HMEC (human mammary epithelial cells) RCC 7860 (Renal cell carcinoma)
ASB for transcription factors
CTCF_HUMAN RAD21_HUMAN STAG2_HUMAN KDM5B_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 1.87 0.33 3.5·10-861.00 1.94 1.62 Weak Discordant
RAD21_HUMAN 2.14 0.84 3.0·10-101.00 2.06 n/a n/a
STAG2_HUMAN 3.87 -4.01 6.0·10-71.00 1.00 n/a n/a
KDM5B_HUMAN 2.39 -1.57 1.9·10-51.00 2.62 n/a n/a
SMC1A_HUMAN 2.90 -2.88 2.3·10-31.00 1.00 n/a n/a
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Motif analysis

CTCF_HUMAN Weak Discordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Artery_Tibial,  Brain_Cortex,  Breast_Mammary_Tissue,  Cells_Cultured_fibroblasts,  Colon_Sigmoid,  Colon_Transverse,  Esophagus_Gastroesophageal_Junction,  Esophagus_Mucosa,  Esophagus_Muscularis,  Heart_Atrial_Appendage,  Lung,  Muscle_Skeletal,  Nerve_Tibial,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Thyroid,  Whole_Blood

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