rs2074086

Homo sapiens
T>C
ABCC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0402 (12032/29888,GnomAD)
C=0467 (13623/29118,TOPMED)
C=0423 (2117/5008,1000G)
C=0303 (1166/3854,ALSPAC)
C=0328 (1216/3708,TWINSUK)
chr16:16087285 (GRCh38.p7) (16p13.11)
AD
GWASdb2
2   publication(s)
See rs on genome
15 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.16087285T>C
GRCh37.p13 chr 16NC_000016.9:g.16181142T>C
ABCC1 RefSeqGeneNG_028268.1:g.142709T>C
GRCh38.p7 chr 16 alt locus HSCHR16_1_CTG1NT_187607.1:g.1745141C>T

Gene: ABCC1, ATP binding cassette subfamily C member 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ABCC1 transcriptNM_004996.3:c.N/AIntron Variant
ABCC1 transcript variant X2XM_011522497.1:c.N/AIntron Variant
ABCC1 transcript variant X5XM_011522498.2:c.N/AIntron Variant
ABCC1 transcript variant X1XM_017023237.1:c.N/AIntron Variant
ABCC1 transcript variant X3XM_017023238.1:c.N/AIntron Variant
ABCC1 transcript variant X4XM_017023239.1:c.N/AIntron Variant
ABCC1 transcript variant X6XM_017023240.1:c.N/AIntron Variant
ABCC1 transcript variant X7XM_017023241.1:c.N/AIntron Variant
ABCC1 transcript variant X8XM_017023242.1:c.N/AIntron Variant
ABCC1 transcript variant X9XM_017023243.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.337C=0.663
1000GenomesAmericanSub694T=0.710C=0.290
1000GenomesEast AsianSub1008T=0.640C=0.360
1000GenomesEuropeSub1006T=0.686C=0.314
1000GenomesGlobalStudy-wide5008T=0.577C=0.423
1000GenomesSouth AsianSub978T=0.630C=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.697C=0.303
The Genome Aggregation DatabaseAfricanSub8694T=0.382C=0.618
The Genome Aggregation DatabaseAmericanSub836T=0.720C=0.280
The Genome Aggregation DatabaseEast AsianSub1618T=0.642C=0.358
The Genome Aggregation DatabaseEuropeSub18438T=0.688C=0.311
The Genome Aggregation DatabaseGlobalStudy-wide29888T=0.597C=0.402
The Genome Aggregation DatabaseOtherSub302T=0.660C=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.532C=0.467
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.672C=0.328
PMID Title Author Journal
21107304Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation.Jacobson PATransplantation
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs20740860.000488alcohol consumption (maxi-drinks)24277619

eQTL of rs2074086 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 rs2074086 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 )
chr161618673416186803E0705592
chr161618697616187053E0705834
chr161618705416187830E0705912
chr161616550616166035E071-15107
chr161621359216213698E07132450
chr161618981416189922E0748672
chr161618996516190005E0748823
chr161619008516190854E0748943
chr161613521016135746E081-45396
chr161613588816136323E081-44819
chr161613649016136544E081-44598
chr161613659516136645E081-44497
chr161613672216136776E081-44366
chr161613500516135201E082-45941
chr161613521016135746E082-45396