rs11943027

Homo sapiens
G>C
FAM114A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0287 (8492/29576,GnomAD)
G==0239 (6981/29118,TOPMED)
G==0118 (591/5008,1000G)
G==0431 (1661/3854,ALSPAC)
G==0442 (1638/3708,TWINSUK)
chr4:38880267 (GRCh38.p7) (4p14)
AD
GWASCatalog
1   publication(s)
See rs on genome
84 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.38880267G>C
GRCh37.p13 chr 4NC_000004.11:g.38881888G>C

Gene: FAM114A1, family with sequence similarity 114 member A1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FAM114A1 transcript variant 1NM_138389.2:c.N/AIntron Variant
FAM114A1 transcript variant 3NR_033290.1:n.N/AIntron Variant
FAM114A1 transcript variant X1XM_005262672.2:c.N/AIntron Variant
FAM114A1 transcript variant X3XM_006714033.2:c.N/AIntron Variant
FAM114A1 transcript variant X2XM_017008838.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.018C=0.982
1000GenomesAmericanSub694G=0.190C=0.810
1000GenomesEast AsianSub1008G=0.000C=1.000
1000GenomesEuropeSub1006G=0.408C=0.592
1000GenomesGlobalStudy-wide5008G=0.118C=0.882
1000GenomesSouth AsianSub978G=0.030C=0.970
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.431C=0.569
The Genome Aggregation DatabaseAfricanSub8654G=0.075C=0.925
The Genome Aggregation DatabaseAmericanSub828G=0.160C=0.840
The Genome Aggregation DatabaseEast AsianSub1620G=0.001C=0.999
The Genome Aggregation DatabaseEuropeSub18180G=0.419C=0.580
The Genome Aggregation DatabaseGlobalStudy-wide29576G=0.287C=0.712
The Genome Aggregation DatabaseOtherSub294G=0.290C=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.239C=0.760
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.442C=0.558
PMID Title Author Journal
24166409Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs119430276E-06alcohol dependence24166409

eQTL of rs11943027 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 rs11943027 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 )
chr43885905738859885E067-22003
chr43887335638873511E067-8377
chr43887388538874019E067-7869
chr43887537938875472E067-6416
chr43889075438891344E0678866
chr43892427638924408E06742388
chr43892546138925552E06743573
chr43892597838926534E06744090
chr43892663738926692E06744749
chr43892861938928693E06746731
chr43885891338858989E068-22899
chr43885905738859885E068-22003
chr43887120638871413E068-10475
chr43887184538872025E068-9863
chr43887421638874644E068-7244
chr43887466538875086E068-6802
chr43887522338875374E068-6514
chr43887537938875472E068-6416
chr43889075438891344E0688866
chr43892597838926534E06844090
chr43892663738926692E06844749
chr43892728538927335E06845397
chr43892770538927887E06845817
chr43892861938928693E06846731
chr43885905738859885E069-22003
chr43887120638871413E069-10475
chr43887184538872025E069-9863
chr43887207438872309E069-9579
chr43887235038872435E069-9453
chr43887335638873511E069-8377
chr43887466538875086E069-6802
chr43889075438891344E0698866
chr43892546138925552E06943573
chr43892597838926534E06944090
chr43892663738926692E06944749
chr43892728538927335E06945397
chr43892770538927887E06945817
chr43892861938928693E06946731
chr43892597838926534E07044090
chr43885891338858989E071-22899
chr43885905738859885E071-22003
chr43886012638860269E071-21619
chr43887120638871413E071-10475
chr43887184538872025E071-9863
chr43887207438872309E071-9579
chr43887421638874644E071-7244
chr43887466538875086E071-6802
chr43892427638924408E07142388
chr43892597838926534E07144090
chr43892663738926692E07144749
chr43892728538927335E07145397
chr43892770538927887E07145817
chr43892861938928693E07146731
chr43885905738859885E072-22003
chr43887120638871413E072-10475
chr43887184538872025E072-9863
chr43887207438872309E072-9579
chr43887421638874644E072-7244
chr43887466538875086E072-6802
chr43887522338875374E072-6514
chr43887537938875472E072-6416
chr43892546138925552E07243573
chr43892597838926534E07244090
chr43892663738926692E07244749
chr43892770538927887E07245817
chr43892861938928693E07246731
chr43892597838926534E07344090
chr43892861938928693E07346731
chr43885891338858989E074-22899
chr43885905738859885E074-22003
chr43886087638861110E074-20778
chr43887184538872025E074-9863
chr43887207438872309E074-9579
chr43887235038872435E074-9453
chr43887421638874644E074-7244
chr43887466538875086E074-6802
chr43887522338875374E074-6514
chr43887537938875472E074-6416
chr43892597838926534E07444090
chr43892663738926692E07444749
chr43892728538927335E07445397
chr43892770538927887E07445817
chr43892861938928693E07446731
chr43892597838926534E08144090









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr43886854638870662E067-11226
chr43885770838857951E068-23937
chr43885802638858135E068-23753
chr43885814338858706E068-23182
chr43886854638870662E068-11226
chr43885770838857951E069-23937
chr43885802638858135E069-23753
chr43885814338858706E069-23182
chr43886854638870662E069-11226
chr43886854638870662E070-11226
chr43885770838857951E071-23937
chr43885802638858135E071-23753
chr43886854638870662E071-11226
chr43885770838857951E072-23937
chr43885802638858135E072-23753
chr43885814338858706E072-23182
chr43886854638870662E072-11226
chr43885802638858135E073-23753
chr43885814338858706E073-23182
chr43886854638870662E073-11226
chr43885770838857951E074-23937
chr43885802638858135E074-23753
chr43885814338858706E074-23182
chr43886854638870662E074-11226
chr43886854638870662E082-11226