rs1229430

Homo sapiens
C>T
CREG1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0362 (10849/29932,GnomAD)
C==0376 (10965/29118,TOPMED)
C==0347 (1739/5008,1000G)
C==0383 (1475/3854,ALSPAC)
C==0385 (1426/3708,TWINSUK)
chr1:167544181 (GRCh38.p7) (1q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
96 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.167544181C>T
GRCh37.p13 chr 1NC_000001.10:g.167513418C>T

Gene: CREG1, cellular repressor of E1A stimulated genes 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CREG1 transcriptNM_003851.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.353T=0.647
1000GenomesAmericanSub694C=0.400T=0.600
1000GenomesEast AsianSub1008C=0.305T=0.695
1000GenomesEuropeSub1006C=0.398T=0.602
1000GenomesGlobalStudy-wide5008C=0.347T=0.653
1000GenomesSouth AsianSub978C=0.300T=0.700
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.383T=0.617
The Genome Aggregation DatabaseAfricanSub8708C=0.333T=0.667
The Genome Aggregation DatabaseAmericanSub838C=0.480T=0.520
The Genome Aggregation DatabaseEast AsianSub1612C=0.372T=0.628
The Genome Aggregation DatabaseEuropeSub18472C=0.368T=0.631
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.362T=0.637
The Genome Aggregation DatabaseOtherSub302C=0.440T=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.376T=0.623
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.385T=0.615
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs12294308E-05alcoholism (heaviness of drinking)21529783

eQTL of rs1229430 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 rs1229430 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 )
chr1167509462167510084E067-3334
chr1167510354167510493E067-2925
chr1167510954167511151E067-2267
chr1167511775167511883E067-1535
chr1167523879167523935E06710461
chr1167473377167473502E068-39916
chr1167473577167473662E068-39756
chr1167509462167510084E068-3334
chr1167510354167510493E068-2925
chr1167510954167511151E068-2267
chr1167513791167514077E068373
chr1167517653167518181E0684235
chr1167518359167518540E0684941
chr1167520391167520958E0686973
chr1167521155167521209E0687737
chr1167521302167521342E0687884
chr1167525080167525688E06811662
chr1167499388167499637E069-13781
chr1167502662167502892E069-10526
chr1167502922167503502E069-9916
chr1167507932167508178E069-5240
chr1167509462167510084E069-3334
chr1167510354167510493E069-2925
chr1167510954167511151E069-2267
chr1167511775167511883E069-1535
chr1167513791167514077E069373
chr1167517653167518181E0694235
chr1167521155167521209E0697737
chr1167521302167521342E0697884
chr1167497574167498020E070-15398
chr1167499388167499637E070-13781
chr1167502662167502892E070-10526
chr1167502922167503502E070-9916
chr1167505651167505727E070-7691
chr1167521155167521209E0707737
chr1167521302167521342E0707884
chr1167473812167473976E071-39442
chr1167474175167474344E071-39074
chr1167502662167502892E071-10526
chr1167505651167505727E071-7691
chr1167505839167505938E071-7480
chr1167507932167508178E071-5240
chr1167510354167510493E071-2925
chr1167510954167511151E071-2267
chr1167511775167511883E071-1535
chr1167512031167512167E071-1251
chr1167512400167512820E071-598
chr1167513281167513355E071-63
chr1167513791167514077E071373
chr1167514306167514433E071888
chr1167520391167520958E0716973
chr1167521155167521209E0717737
chr1167521302167521342E0717884
chr1167473377167473502E072-39916
chr1167473577167473662E072-39756
chr1167473812167473976E072-39442
chr1167499388167499637E072-13781
chr1167509462167510084E072-3334
chr1167510354167510493E072-2925
chr1167510954167511151E072-2267
chr1167511775167511883E072-1535
chr1167512031167512167E072-1251
chr1167512400167512820E072-598
chr1167513281167513355E072-63
chr1167513791167514077E072373
chr1167514306167514433E072888
chr1167517653167518181E0724235
chr1167518359167518540E0724941
chr1167523879167523935E07210461
chr1167499388167499637E073-13781
chr1167502662167502892E073-10526
chr1167502922167503502E073-9916
chr1167507932167508178E073-5240
chr1167510354167510493E073-2925
chr1167510954167511151E073-2267
chr1167520391167520958E0736973
chr1167521155167521209E0737737
chr1167521302167521342E0737884
chr1167502662167502892E074-10526
chr1167502922167503502E074-9916
chr1167507932167508178E074-5240
chr1167510954167511151E074-2267
chr1167511775167511883E074-1535
chr1167512031167512167E074-1251
chr1167512400167512820E074-598
chr1167513791167514077E074373
chr1167514306167514433E074888
chr1167517653167518181E0744235
chr1167518359167518540E0744941
chr1167523879167523935E07410461
chr1167499388167499637E081-13781
chr1167502662167502892E081-10526
chr1167502922167503502E081-9916
chr1167563231167563311E08149813
chr1167499388167499637E082-13781
chr1167502662167502892E082-10526










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1167522326167523781E0678908
chr1167522326167523781E0688908
chr1167522326167523781E0698908
chr1167522326167523781E0708908
chr1167522326167523781E0718908
chr1167522326167523781E0728908
chr1167522326167523781E0738908
chr1167522326167523781E0748908
chr1167522326167523781E0818908
chr1167522326167523781E0828908