rs34717 chr19:29873739 C>T

Sequence
cctggccaggctggtgctcagacc[C/T]ccacccagcgcccccgcgcccccg
ASB in cell types
K562 (myelogenous leukemia) MCF7 (Invasive ductal breast carcinoma) neural cell D54 (H54, Human glioblastoma)
ASB for transcription factors
CTCF_HUMAN RARA_HUMAN REST_HUMAN

Color scale

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

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
CTCF_HUMAN 0.31 0.94 1.002.0·10-18 1.33 1.35 Weak Concordant
RARA_HUMAN 1.67 -0.16 0.011.00 1.31 n/a No Hit
REST_HUMAN n/a 2.00 1.000.04 2.00 -2.23 Discordant
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Motif analysis

REST_HUMAN Discordant
REST_HUMAN pic

Genetic associations

GTEx eQTL Esophagus_Mucosa Skin_Not_Sun_Exposed_Suprapubic Skin_Sun_Exposed_Lower_leg

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