rs12617802 chr2:171521499 G>C

Sequence
aatgcatacaagtgcacaatccct[G/C]tacactggccagaaccggtccatg
ASB in cell types
K562 (myelogenous leukemia)
ASB for transcription factors
REST_HUMAN SOX6_HUMAN LEF1_HUMAN REQU_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (G) 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
REST_HUMAN 1.17 n/a 6.4·10-61.00 1.50 -1.88 Weak Concordant
SOX6_HUMAN 2.84 -2.58 2.1·10-31.00 1.00 n/a No Hit
LEF1_HUMAN 3.04 0.31 4.9·10-31.00 1.00 n/a No Hit
REQU_HUMAN 2.31 0.67 0.041.00 1.00 n/a n/a
TIF1A_HUMAN 2.23 -0.75 0.041.00 1.25 n/a n/a
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Motif analysis

REST_HUMAN Weak Concordant
REST_HUMAN pic

Genetic associations

GRASP cystatin c in serum
GTEx eQTL Adipose_Visceral_Omentum Cells_Cultured_fibroblasts Esophagus_Mucosa Esophagus_Muscularis Lung Nerve_Tibial Pituitary Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg Spleen Whole_Blood

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