rs1819979 chr19:48260299 G>A

Sequence
gacgccggcattaccgctagacca[G/A]ggagccctctagtggccatgtctg
ASB in cell types
A549 (lung carcinoma) THP-1 (acute monocytic leukemia) HEK293 (embryonic kidney) WA09 (embryonic stem cells)
ASB for transcription factors
RAD21_HUMAN CTCF_HUMAN STAG1_HUMAN SMC3_HUMAN
Search SNPs nearby
View in UCSC Genome Browser
View in PheLiGe

Color scale

color scale ref
-log10 FDR of Ref (G) ASB
color scale alt
-log10 FDR of Alt (A) ASB

Details

Uniprot ID
Effect size Ref
Effect size Alt
FDR Ref
FDR Alt
Mean BAD
Motif fold change
Motif concordance
RAD21_HUMAN 1.59 0.33 4.9·10-351.00 1.24 n/a n/a
CTCF_HUMAN 1.22 0.51 2.8·10-211.00 1.29 -1.83 Weak Concordant
STAG1_HUMAN 0.80 -0.14 1.2·10-111.00 1.03 n/a n/a
SMC3_HUMAN 1.11 -0.03 1.8·10-31.00 1.17 n/a n/a
ZNF2_HUMAN -4.19 2.48 1.000.02 1.50 n/a No Hit
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Motif analysis

CTCF_HUMAN Weak Concordant
CTCF_HUMAN pic

Genetic associations

GTEx eQTL Adipose_Subcutaneous,  Artery_Aorta,  Artery_Tibial,  Breast_Mammary_Tissue,  Esophagus_Gastroesophageal_Junction,  Esophagus_Muscularis,  Lung,  Nerve_Tibial,  Pituitary,  Skin_Not_Sun_Exposed_Suprapubic,  Skin_Sun_Exposed_Lower_leg,  Thyroid,  Whole_Blood

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