rs1675389 chr19:40570843 C>G

Sequence
aacttcaggccctccagcaggtgg[C/G]ggtagtaggtggggccagagctgg
ASB in cell types
HEK293 (embryonic kidney) GM12878 (female B-cells lymphoblastoid cell line) HepG2 (hepatoblastoma) A549 (lung carcinoma)
ASB for transcription factors
CTCF_HUMAN STAG1_HUMAN KLF10_HUMAN SP2_HUMAN

Color scale

color scale ref
-log10 FDR of Ref (C) 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 2.96 -0.06 2.8·10-111.00 1.83 -5.86 Concordant
STAG1_HUMAN 3.69 -3.57 1.8·10-71.00 1.00 n/a n/a
KLF10_HUMAN 1.29 n/a 5.7·10-71.00 4.00 n/a n/a
SP2_HUMAN 1.16 n/a 2.9·10-51.00 4.00 1.42 Weak Discordant
KLF9_HUMAN 1.38 n/a 4.4·10-51.00 5.00 n/a No Hit
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Motif analysis

CTCF_HUMAN Concordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Brain_Cerebellar_Hemisphere Brain_Cerebellum Brain_Cortex Cells_Cultured_fibroblasts Esophagus_Gastroesophageal_Junction

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