rs12441018

Homo sapiens
T>G
EHD4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0247 (7421/29936,GnomAD)
G=0205 (5996/29118,TOPMED)
G=0220 (1102/5008,1000G)
G=0325 (1254/3854,ALSPAC)
G=0328 (1215/3708,TWINSUK)
chr15:41901373 (GRCh38.p7) (15q15.1)
CD
GWASdb2
1   publication(s)
See rs on genome
116 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.41901373T>G
GRCh37.p13 chr 15NC_000015.9:g.42193571T>G

Gene: EHD4, EH domain containing 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EHD4 transcriptNM_139265.3:c.N/AIntron Variant
EHD4 transcript variant X1XM_017022100.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.955G=0.045
1000GenomesAmericanSub694T=0.620G=0.380
1000GenomesEast AsianSub1008T=0.817G=0.183
1000GenomesEuropeSub1006T=0.672G=0.328
1000GenomesGlobalStudy-wide5008T=0.780G=0.220
1000GenomesSouth AsianSub978T=0.730G=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.675G=0.325
The Genome Aggregation DatabaseAfricanSub8726T=0.902G=0.098
The Genome Aggregation DatabaseAmericanSub836T=0.630G=0.370
The Genome Aggregation DatabaseEast AsianSub1618T=0.807G=0.193
The Genome Aggregation DatabaseEuropeSub18454T=0.682G=0.317
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.752G=0.247
The Genome Aggregation DatabaseOtherSub302T=0.690G=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.794G=0.205
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.672G=0.328
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
rs124410180.000254cocaine dependence23958962

eQTL of rs12441018 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:42193571RPAP1ENSG00000103932.7T>G4.1190e-9357104Cerebellum
Chr15:42193571RP11-107F6.3ENSG00000260814.2T>G3.8000e-4128641Cerebellum
Chr15:42193571MAPKBP1ENSG00000137802.9T>G1.6567e-7126939Cerebellum
Chr15:42193571SPTBN5ENSG00000137877.8T>G2.3126e-1611168Cerebellum

meQTL of rs12441018 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 )
chr154219640142196530E0672830
chr154219653542197728E0672964
chr154220524542205538E06711674
chr154220560742205740E06712036
chr154220608042206307E06712509
chr154220635242206964E06712781
chr154220730442207413E06713733
chr154220838642208775E06714815
chr154220975142210616E06716180
chr154218613342186413E068-7158
chr154219653542197728E0682964
chr154220730442207413E06813733
chr154220757742207700E06814006
chr154220770142207844E06814130
chr154220788942207995E06814318
chr154220838642208775E06814815
chr154220975142210616E06816180
chr154221335942213718E06819788
chr154221371942214354E06820148
chr154222086642221907E06827295
chr154222227642223283E06828705
chr154223041242230535E06836841
chr154217517442176015E069-17556
chr154218646242187988E069-5583
chr154220524542205538E06911674
chr154220560742205740E06912036
chr154220757742207700E06914006
chr154220770142207844E06914130
chr154220788942207995E06914318
chr154220975142210616E06916180
chr154221371942214354E06920148
chr154222086642221907E06927295
chr154222884942230116E06935278
chr154217517442176015E071-17556
chr154218646242187988E071-5583
chr154219640142196530E0712830
chr154219653542197728E0712964
chr154220496242205103E07111391
chr154220511442205198E07111543
chr154220524542205538E07111674
chr154220560742205740E07112036
chr154220608042206307E07112509
chr154220635242206964E07112781
chr154220730442207413E07113733
chr154220757742207700E07114006
chr154220770142207844E07114130
chr154220788942207995E07114318
chr154220838642208775E07114815
chr154220975142210616E07116180
chr154221061742211458E07117046
chr154221148442212128E07117913
chr154221371942214354E07120148
chr154222086642221907E07127295
chr154222194542222112E07128374
chr154222227642223283E07128705
chr154222677742227594E07133206
chr154222778842227988E07134217
chr154222884942230116E07135278
chr154224331342243363E07149742
chr154224338942243433E07149818
chr154224351142243568E07149940
chr154214585142145901E072-47670
chr154214593942146158E072-47413
chr154214617742146491E072-47080
chr154218646242187988E072-5583
chr154219653542197728E0722964
chr154220524542205538E07211674
chr154220560742205740E07212036
chr154220608042206307E07212509
chr154220635242206964E07212781
chr154220975142210616E07216180
chr154221061742211458E07217046
chr154221371942214354E07220148
chr154222086642221907E07227295
chr154222194542222112E07228374
chr154222212442222232E07228553
chr154218613342186413E073-7158
chr154219653542197728E0732964
chr154220608042206307E07312509
chr154220635242206964E07312781
chr154220730442207413E07313733
chr154220838642208775E07314815
chr154220880242209263E07315231
chr154220975142210616E07316180
chr154221061742211458E07317046
chr154221281042213310E07319239
chr154221335942213718E07319788
chr154221371942214354E07320148
chr154222086642221907E07327295
chr154222194542222112E07328374
chr154222212442222232E07328553
chr154222227642223283E07328705
chr154223777242237850E07344201
chr154223788242237940E07344311
chr154223796642238469E07344395
chr154220496242205103E07411391
chr154220511442205198E07411543
chr154220524542205538E07411674
chr154220560742205740E07412036
chr154220608042206307E07412509
chr154220635242206964E07412781
chr154220770142207844E07414130
chr154220788942207995E07414318
chr154220838642208775E07414815
chr154220880242209263E07415231
chr154220975142210616E07416180
chr154221335942213718E07419788
chr154221371942214354E07420148
chr154221437142214571E07420800
chr154222086642221907E07427295
chr154222227642223283E07428705
chr154218932842189511E081-4060
chr154218963542190057E081-3514
chr154219011842190226E081-3345
chr154222086642221907E08127295
chr154214593942146158E082-47413









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr154217441842174966E070-18605
chr154217441842174966E082-18605