rs2487588 chr1:42335343 T>C

Sequence
aagtccctgcgcggtcacggtcgc[T/C]tcgacgcacgcaggatccctccgc
ASB in cell types
fetal proerythroblasts CD34+ hematopoietic stem cells-derived proerythroblasts K562 (myelogenous leukemia) keratinocytes
ASB for transcription factors
NFE2_HUMAN SNAI2_HUMAN BC11B_HUMAN TBP_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
NFE2_HUMAN 3.17 -0.50 5.6·10-80.95 1.33 n/a No Hit
SNAI2_HUMAN 2.91 -4.86 2.0·10-41.00 1.50 n/a No Hit
BC11B_HUMAN -0.34 2.29 0.922.6·10-4 2.00 n/a n/a
TBP_HUMAN 0.04 1.29 1.001.1·10-3 1.00 n/a No Hit
GCR_HUMAN 0.10 1.21 1.001.4·10-3 1.18 n/a No Hit
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Motif analysis

ESR1_HUMAN Concordant
ESR1_HUMAN pic

Genetic associations

GTEx eQTL Esophagus_Mucosa Nerve_Tibial

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