rs2644171

Homo sapiens
A>G
METTL4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0430 (12870/29910,GnomAD)
G=0434 (12647/29118,TOPMED)
G=0378 (1892/5008,1000G)
G=0452 (1743/3854,ALSPAC)
G=0469 (1739/3708,TWINSUK)
chr18:2540199 (GRCh38.p7) (18p11.32)
AD
GWASdb2
1   publication(s)
See rs on genome
39 Enhancers around
27 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.2540199A>G
GRCh37.p13 chr 18NC_000018.9:g.2540198A>G

Gene: METTL4, methyltransferase like 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
METTL4 transcript variant 2NM_001308401.1:c.N/AIntron Variant
METTL4 transcript variant 1NM_022840.4:c.N/AIntron Variant
METTL4 transcript variant X2XM_005258132.3:c.N/AIntron Variant
METTL4 transcript variant X3XM_005258133.2:c.N/AIntron Variant
METTL4 transcript variant X4XM_011525730.2:c.N/AIntron Variant
METTL4 transcript variant X5XR_001753260.1:n.N/AIntron Variant
METTL4 transcript variant X1XR_243813.3:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.542G=0.458
1000GenomesAmericanSub694A=0.700G=0.300
1000GenomesEast AsianSub1008A=0.818G=0.182
1000GenomesEuropeSub1006A=0.534G=0.466
1000GenomesGlobalStudy-wide5008A=0.622G=0.378
1000GenomesSouth AsianSub978A=0.560G=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.548G=0.452
The Genome Aggregation DatabaseAfricanSub8702A=0.553G=0.447
The Genome Aggregation DatabaseAmericanSub838A=0.720G=0.280
The Genome Aggregation DatabaseEast AsianSub1614A=0.814G=0.186
The Genome Aggregation DatabaseEuropeSub18456A=0.549G=0.450
The Genome Aggregation DatabaseGlobalStudy-wide29910A=0.569G=0.430
The Genome Aggregation DatabaseOtherSub300A=0.580G=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.565G=0.434
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.531G=0.469
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs26441715.02E-05alcoholismpha002893

eQTL of rs2644171 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 rs2644171 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 )
chr1825382542538352E067-1846
chr1825383802538572E067-1626
chr1825696722569836E06729474
chr1825698942570033E06729696
chr1825382542538352E068-1846
chr1825383802538572E068-1626
chr1825696722569836E06829474
chr1825383802538572E069-1626
chr1825696722569836E06929474
chr1825698942570033E06929696
chr1825105432510788E070-29410
chr1825689592569021E07028761
chr1825693082569358E07029110
chr1825694662569598E07029268
chr1825696722569836E07029474
chr1825698942570033E07029696
chr1825694662569598E07129268
chr1825696722569836E07129474
chr1825696722569836E07229474
chr1825698942570033E07229696
chr1825696722569836E07329474
chr1825698942570033E07329696
chr1825689592569021E07428761
chr1825693082569358E07429110
chr1825694662569598E07429268
chr1825696722569836E07429474
chr1825698942570033E07429696
chr1825104872510535E081-29663
chr1825105432510788E081-29410
chr1825689592569021E08128761
chr1825693082569358E08129110
chr1825694662569598E08129268
chr1825696722569836E08129474
chr1825698942570033E08129696
chr1825689592569021E08228761
chr1825693082569358E08229110
chr1825694662569598E08229268
chr1825696722569836E08229474
chr1825698942570033E08229696










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1825704722570555E06730274
chr1825706042572752E06730406
chr1825704722570555E06830274
chr1825706042572752E06830406
chr1825704722570555E06930274
chr1825706042572752E06930406
chr1825704722570555E07030274
chr1825706042572752E07030406
chr1825727962572922E07032598
chr1825735402573722E07033342
chr1825738192573908E07033621
chr1825704722570555E07130274
chr1825706042572752E07130406
chr1825704722570555E07230274
chr1825706042572752E07230406
chr1825704722570555E07330274
chr1825706042572752E07330406
chr1825704722570555E07430274
chr1825706042572752E07430406
chr1825704722570555E08130274
chr1825706042572752E08130406
chr1825727962572922E08132598
chr1825704722570555E08230274
chr1825706042572752E08230406
chr1825727962572922E08232598
chr1825735402573722E08233342
chr1825738192573908E08233621