rs17164572

Homo sapiens
C>T
TNFAIP8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0107 (3226/29940,GnomAD)
T=0120 (3512/29118,TOPMED)
T=0090 (450/5008,1000G)
T=0061 (236/3854,ALSPAC)
T=0066 (244/3708,TWINSUK)
chr5:119338002 (GRCh38.p7) (5q23.1)
ND
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.119338002C>T
GRCh37.p13 chr 5NC_000005.9:g.118673697C>T

Gene: TNFAIP8, TNF alpha induced protein 8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TNFAIP8 transcript variant 2NM_001077654.2:c.N/AIntron Variant
TNFAIP8 transcript variant 4NM_001286814.1:c.N/AIntron Variant
TNFAIP8 transcript variant 5NM_001286815.1:c.N/AIntron Variant
TNFAIP8 transcript variant 6NM_001286817.1:c.N/AIntron Variant
TNFAIP8 transcript variant 3NM_001286813.1:c.N/AGenic Upstream Transcript Variant
TNFAIP8 transcript variant 1NM_014350.3:c.N/AGenic Upstream Transcript Variant
TNFAIP8 transcript variant X2XM_017009328.1:c.N/AIntron Variant
TNFAIP8 transcript variant X1XM_017009327.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.798T=0.202
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.969T=0.031
1000GenomesEuropeSub1006C=0.940T=0.060
1000GenomesGlobalStudy-wide5008C=0.910T=0.090
1000GenomesSouth AsianSub978C=0.970T=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.939T=0.061
The Genome Aggregation DatabaseAfricanSub8700C=0.797T=0.203
The Genome Aggregation DatabaseAmericanSub838C=0.930T=0.070
The Genome Aggregation DatabaseEast AsianSub1620C=0.951T=0.049
The Genome Aggregation DatabaseEuropeSub18480C=0.930T=0.069
The Genome Aggregation DatabaseGlobalStudy-wide29940C=0.892T=0.107
The Genome Aggregation DatabaseOtherSub302C=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.879T=0.120
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.934T=0.066
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs171645725.29E-05alcohol and nictotine co-dependence20158304

eQTL of rs17164572 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr5:118673697TNFAIP8ENSG00000145779.7C>T2.9197e-1269310Cerebellum
Chr5:118673697TNFAIP8ENSG00000145779.7C>T9.0479e-669310Cerebellar_Hemisphere

meQTL of rs17164572 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr5118651198118651839E068-21858
chr5118693617118693763E07019920
chr5118651198118651839E071-21858
chr5118651198118651839E074-21858




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5118690801118692895E06717104
chr5118690801118692895E06817104
chr5118690801118692895E06917104
chr5118690801118692895E07017104
chr5118690801118692895E07117104
chr5118690801118692895E07217104
chr5118690801118692895E07317104
chr5118690801118692895E07417104
chr5118690801118692895E08117104