rs16936012

Homo sapiens
G>A / G>T
SULF1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0081 (2451/29964,GnomAD)
T=0154 (773/5008,1000G)
T=0016 (60/3854,ALSPAC)
T=0012 (46/3708,TWINSUK)
chr8:69530638 (GRCh38.p7) (8q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.69530638G>A
GRCh38.p7 chr 8NC_000008.11:g.69530638G>T
GRCh37.p13 chr 8NC_000008.10:g.70442873G>A
GRCh37.p13 chr 8NC_000008.10:g.70442873G>T
SULF1 RefSeqGeneNG_042849.1:g.69015G>A
SULF1 RefSeqGeneNG_042849.1:g.69015G>T

Gene: SULF1, sulfatase 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SULF1 transcript variant 4NM_001128204.1:c.N/AIntron Variant
SULF1 transcript variant 1NM_001128205.1:c.N/AIntron Variant
SULF1 transcript variant 2NM_001128206.1:c.N/AIntron Variant
SULF1 transcript variant 3NM_015170.2:c.N/AIntron Variant
SULF1 transcript variant 5NR_132437.1:n.N/AGenic Upstream Transcript Variant
SULF1 transcript variant X1XM_006716438.2:c.N/AIntron Variant
SULF1 transcript variant X3XM_006716439.2:c.N/AIntron Variant
SULF1 transcript variant X2XM_006716440.3:c.N/AIntron Variant
SULF1 transcript variant X4XM_011517494.1:c.N/AIntron Variant
SULF1 transcript variant X8XM_011517495.1:c.N/AIntron Variant
SULF1 transcript variant X9XM_017013250.1:c.N/AIntron Variant
SULF1 transcript variant X5XM_006716441.1:c.N/AGenic Upstream Transcript Variant
SULF1 transcript variant X11XM_006716442.1:c.N/AGenic Upstream Transcript Variant
SULF1 transcript variant X7XR_001745503.1:n.N/AIntron Variant
SULF1 transcript variant X6XR_928764.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.884T=0.116
1000GenomesAmericanSub694G=0.850T=0.150
1000GenomesEast AsianSub1008G=0.598T=0.402
1000GenomesEuropeSub1006G=0.970T=0.030
1000GenomesGlobalStudy-wide5008G=0.846T=0.154
1000GenomesSouth AsianSub978G=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.984T=0.016
The Genome Aggregation DatabaseAfricanSub8724G=0.889T=0.111
The Genome Aggregation DatabaseAmericanSub838G=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1598G=0.561T=0.439
The Genome Aggregation DatabaseEuropeSub18502G=0.964T=0.035
The Genome Aggregation DatabaseGlobalStudy-wide29964G=0.918T=0.081
The Genome Aggregation DatabaseOtherSub302G=0.980T=0.020
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.988T=0.012
PMID Title Author Journal
22096494A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study.Zuo LPLoS One

P-Value

SNP ID p-value Traits Study
rs169360127.3E-05alcohol dependence22096494

eQTL of rs16936012 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 rs16936012 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 )
chr87289988172900003E068-35822
chr87290003572900340E068-35485
chr87290040472900505E068-35320
chr87290062972900709E068-35116
chr87290074372900797E068-35028
chr87293085372931155E068-4670
chr87290003572900340E074-35485
chr87289317172893483E081-42342
chr87289361372893811E081-42014
chr87289383872893888E081-41937
chr87289390872893981E081-41844
chr87291036172910484E081-25341
chr87291051572910621E081-25204
chr87291097372911068E081-24757
chr87291120772911340E081-24485
chr87291140972911632E081-24193
chr87291163772911931E081-23894
chr87291253072912580E081-23245
chr87291263472912925E081-22900
chr87291297672913086E081-22739
chr87291338672913457E081-22368
chr87291349872913557E081-22268
chr87291445172914634E081-21191
chr87291464072914700E081-21125
chr87291481772914871E081-20954
chr87291496072915043E081-20782
chr87292252472922578E081-13247
chr87289361372893811E082-42014
chr87289383872893888E082-41937
chr87289390872893981E082-41844
chr87291338672913457E082-22368
chr87292082572920922E082-14903
chr87292094972921012E082-14813
chr87292151072922467E082-13358




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr87291651672918120E067-17705
chr87291651672918120E068-17705
chr87291651672918120E069-17705
chr87291651672918120E071-17705
chr87291651672918120E072-17705
chr87291651672918120E073-17705
chr87291651672918120E082-17705