rs4240530

Homo sapiens
C>T
CHIA : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0320 (9605/29938,GnomAD)
C==0328 (9575/29118,TOPMED)
C==0314 (1573/5008,1000G)
C==0299 (1154/3854,ALSPAC)
C==0292 (1083/3708,TWINSUK)
chr1:111310959 (GRCh38.p7) (1p13.2)
AD
GWASdb2
4   publication(s)
See rs on genome
8 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.111310959C>T
GRCh37.p13 chr 1NC_000001.10:g.111853581C>T

Gene: CHIA, chitinase, acidic(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CHIA transcript variant 3NM_001040623.2:c.N/AIntron Variant
CHIA transcript variant 5NM_001258001.1:c.N/AIntron Variant
CHIA transcript variant 6NM_001258002.1:c.N/AIntron Variant
CHIA transcript variant 7NM_001258003.1:c.N/AIntron Variant
CHIA transcript variant 8NM_001258004.1:c.N/AIntron Variant
CHIA transcript variant 9NM_001258005.1:c.N/AIntron Variant
CHIA transcript variant 2NM_021797.3:c.N/AIntron Variant
CHIA transcript variant 4NM_201653.3:c.N/AIntron Variant
CHIA transcript variant X1XM_006710577.3:c.N/AIntron Variant
CHIA transcript variant X3XM_017001048.1:c.N/AIntron Variant
CHIA transcript variant X2XM_017001047.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.449T=0.551
1000GenomesAmericanSub694C=0.190T=0.810
1000GenomesEast AsianSub1008C=0.156T=0.844
1000GenomesEuropeSub1006C=0.320T=0.680
1000GenomesGlobalStudy-wide5008C=0.314T=0.686
1000GenomesSouth AsianSub978C=0.380T=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.299T=0.701
The Genome Aggregation DatabaseAfricanSub8706C=0.416T=0.584
The Genome Aggregation DatabaseAmericanSub836C=0.190T=0.810
The Genome Aggregation DatabaseEast AsianSub1620C=0.161T=0.839
The Genome Aggregation DatabaseEuropeSub18474C=0.296T=0.703
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.320T=0.679
The Genome Aggregation DatabaseOtherSub302C=0.320T=0.680
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.328T=0.671
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.292T=0.708
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
20226308Polymorphisms of chitinases are not associated with asthma.Wu ACJ Allergy Clin Immunol
23180006Power of a reproducing kernel-based method for testing the joint effect of a set of single-nucleotide polymorphisms.He HGenetica
20538957Fungal exposure modulates the effect of polymorphisms of chitinases on emergency department visits and hospitalizations.Wu ACAm J Respir Crit Care Med

P-Value

SNP ID p-value Traits Study
rs42405300.00084alcohol dependence20201924

eQTL of rs4240530 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs4240530 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 )
chr1111817394111817664E068-35917
chr1111817762111818087E068-35494
chr1111814880111814951E070-38630
chr1111817394111817664E071-35917
chr1111817762111818087E071-35494
chr1111817394111817664E072-35917
chr1111817394111817664E074-35917
chr1111817762111818087E074-35494





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1111888671111889542E06735090
chr1111889571111889663E06735990
chr1111888671111889542E06835090
chr1111889571111889663E06835990
chr1111888671111889542E06935090
chr1111889571111889663E06935990
chr1111888671111889542E07035090
chr1111889571111889663E07035990
chr1111888671111889542E07135090
chr1111889571111889663E07135990
chr1111888671111889542E07235090
chr1111889571111889663E07235990
chr1111888671111889542E07335090
chr1111889571111889663E07335990
chr1111888671111889542E07435090
chr1111889571111889663E07435990
chr1111888671111889542E08235090