rs112765450

Homo sapiens
G>A
ASAP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0032 (971/29986,GnomAD)
A=0042 (1248/29118,TOPMED)
A=0032 (161/5008,1000G)
A=0025 (98/3854,ALSPAC)
A=0028 (103/3708,TWINSUK)
chr8:130424403 (GRCh38.p7) (8q24.22)
CD
GWASdb2
1   publication(s)
See rs on genome
146 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.130424403G>A
GRCh37.p13 chr 8NC_000008.10:g.131436649G>A
ASAP1 RefSeqGeneNG_030354.1:g.24258C>T

Gene: ASAP1, ArfGAP with SH3 domain, ankyrin repeat and PH domain 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ASAP1 transcript variant 2NM_001247996.1:c.N/AIntron Variant
ASAP1 transcript variant 1NM_018482.3:c.N/AIntron Variant
ASAP1 transcript variant X1XM_005250925.1:c.N/AIntron Variant
ASAP1 transcript variant X2XM_006716563.3:c.N/AIntron Variant
ASAP1 transcript variant X4XM_006716564.1:c.N/AIntron Variant
ASAP1 transcript variant X8XM_006716566.1:c.N/AIntron Variant
ASAP1 transcript variant X9XM_017013468.1:c.N/AIntron Variant
ASAP1 transcript variant X10XM_017013469.1:c.N/AIntron Variant
ASAP1 transcript variant X7XM_006716565.3:c.N/AGenic Upstream Transcript Variant
ASAP1 transcript variant X3XM_011517052.2:c.N/AGenic Upstream Transcript Variant
ASAP1 transcript variant X5XM_011517053.1:c.N/AGenic Upstream Transcript Variant
ASAP1 transcript variant X6XM_017013467.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.928A=0.072
1000GenomesAmericanSub694G=0.970A=0.030
1000GenomesEast AsianSub1008G=0.999A=0.001
1000GenomesEuropeSub1006G=0.963A=0.037
1000GenomesGlobalStudy-wide5008G=0.968A=0.032
1000GenomesSouth AsianSub978G=0.990A=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.975A=0.025
The Genome Aggregation DatabaseAfricanSub8726G=0.935A=0.065
The Genome Aggregation DatabaseAmericanSub836G=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1622G=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18500G=0.979A=0.020
The Genome Aggregation DatabaseGlobalStudy-wide29986G=0.967A=0.032
The Genome Aggregation DatabaseOtherSub302G=0.980A=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.957A=0.042
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.972A=0.028
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs1127654504.14E-05cocaine dependence23958962

eQTL of rs112765450 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 rs112765450 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 )
chr8131451909131452477E06715260
chr8131452815131452855E06716166
chr8131452951131453011E06716302
chr8131453159131453497E06716510
chr8131453517131453576E06716868
chr8131398847131399286E068-37363
chr8131408499131409358E068-27291
chr8131428073131428812E068-7837
chr8131428817131429156E068-7493
chr8131429220131429527E068-7122
chr8131429556131429744E068-6905
chr8131449600131449650E06812951
chr8131449723131449829E06813074
chr8131449867131451143E06813218
chr8131452815131452855E06816166
chr8131452951131453011E06816302
chr8131453159131453497E06816510
chr8131453517131453576E06816868
chr8131475677131475848E06839028
chr8131475861131475971E06839212
chr8131476015131476106E06839366
chr8131476156131476631E06839507
chr8131476641131477148E06839992
chr8131477854131478479E06841205
chr8131398847131399286E069-37363
chr8131428073131428812E069-7837
chr8131431253131432163E069-4486
chr8131442855131442948E0696206
chr8131443074131443438E0696425
chr8131443567131443650E0696918
chr8131452815131452855E06916166
chr8131452951131453011E06916302
chr8131453159131453497E06916510
chr8131453517131453576E06916868
chr8131476156131476631E06939507
chr8131476641131477148E06939992
chr8131408499131409358E070-27291
chr8131414665131414719E070-21930
chr8131415012131415066E070-21583
chr8131423899131424057E070-12592
chr8131424102131424177E070-12472
chr8131424298131424348E070-12301
chr8131427375131427460E070-9189
chr8131428817131429156E070-7493
chr8131429770131430277E070-6372
chr8131430386131430478E070-6171
chr8131431253131432163E070-4486
chr8131449867131451143E07013218
chr8131451171131451272E07014522
chr8131451357131451431E07014708
chr8131451436131451505E07014787
chr8131451661131451727E07015012
chr8131451749131451889E07015100
chr8131451909131452477E07015260
chr8131458284131458324E07021635
chr8131458365131458644E07021716
chr8131465726131466175E07029077
chr8131468858131468978E07032209
chr8131469507131469570E07032858
chr8131469647131469989E07032998
chr8131470016131470160E07033367
chr8131470269131470329E07033620
chr8131475677131475848E07039028
chr8131475861131475971E07039212
chr8131476015131476106E07039366
chr8131476156131476631E07039507
chr8131480443131480527E07043794
chr8131480980131481083E07044331
chr8131481272131481322E07044623
chr8131481558131481648E07044909
chr8131482107131482186E07045458
chr8131428073131428812E071-7837
chr8131428817131429156E071-7493
chr8131429220131429527E071-7122
chr8131449474131449597E07112825
chr8131449600131449650E07112951
chr8131449723131449829E07113074
chr8131449867131451143E07113218
chr8131452951131453011E07116302
chr8131453159131453497E07116510
chr8131453517131453576E07116868
chr8131428817131429156E072-7493
chr8131431095131431252E072-5397
chr8131431253131432163E072-4486
chr8131449867131451143E07213218
chr8131452951131453011E07216302
chr8131453159131453497E07216510
chr8131453517131453576E07216868
chr8131428817131429156E073-7493
chr8131429220131429527E073-7122
chr8131442570131442642E0735921
chr8131442855131442948E0736206
chr8131443074131443438E0736425
chr8131443567131443650E0736918
chr8131445007131445087E0738358
chr8131445230131445373E0738581
chr8131445380131445437E0738731
chr8131449867131451143E07313218
chr8131452815131452855E07316166
chr8131452951131453011E07316302
chr8131453159131453497E07316510
chr8131453517131453576E07316868
chr8131428817131429156E074-7493
chr8131429220131429527E074-7122
chr8131429556131429744E074-6905
chr8131429770131430277E074-6372
chr8131431253131432163E074-4486
chr8131445380131445437E0748731
chr8131445658131445920E0749009
chr8131449474131449597E07412825
chr8131449867131451143E07413218
chr8131451171131451272E07414522
chr8131451357131451431E07414708
chr8131451436131451505E07414787
chr8131452815131452855E07416166
chr8131452951131453011E07416302
chr8131453159131453497E07416510
chr8131453517131453576E07416868
chr8131408499131409358E081-27291
chr8131452815131452855E08116166
chr8131452951131453011E08116302
chr8131453159131453497E08116510
chr8131453517131453576E08116868
chr8131475076131475305E08138427
chr8131475347131475438E08138698
chr8131475677131475848E08139028
chr8131475861131475971E08139212
chr8131476015131476106E08139366
chr8131476156131476631E08139507
chr8131476641131477148E08139992
chr8131428817131429156E082-7493
chr8131429220131429527E082-7122
chr8131451357131451431E08214708
chr8131451436131451505E08214787
chr8131451661131451727E08215012
chr8131451749131451889E08215100
chr8131451909131452477E08215260
chr8131452815131452855E08216166
chr8131452951131453011E08216302
chr8131475677131475848E08239028
chr8131475861131475971E08239212
chr8131476015131476106E08239366
chr8131476156131476631E08239507
chr8131476641131477148E08239992
chr8131477781131477847E08241132
chr8131477854131478479E08241205










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8131453650131457893E06717001
chr8131453650131457893E06817001
chr8131453650131457893E06917001
chr8131453650131457893E07017001
chr8131453650131457893E07217001
chr8131453650131457893E08217001