rs1904397

Homo sapiens
C>A
ANK3 : 2KB Upstream Variant
LOC105378320 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0137 (4101/29908,GnomAD)
A=0119 (3480/29118,TOPMED)
A=0119 (598/5008,1000G)
A=0174 (671/3854,ALSPAC)
A=0178 (660/3708,TWINSUK)
chr10:60734102 (GRCh38.p7) (10q21.2)
CD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.60734102C>A
GRCh37.p13 chr 10NC_000010.10:g.62493860C>A
ANK3 RefSeqGeneNG_029917.1:g.4425G>T

Gene: ANK3, ankyrin 3, node of Ranvier (ankyrin G)(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
ANK3 transcript variant 3NM_001204403.1:c.N/AUpstream Transcript Variant
ANK3 transcript variant 2NM_001149.3:c.N/AN/A
ANK3 transcript variant 4NM_001204404.1:c.N/AN/A
ANK3 transcript variant 5NM_001320874.1:c.N/AN/A
ANK3 transcript variant 1NM_020987.4:c.N/AN/A
ANK3 transcript variant X38XM_005269715.3:c.N/AN/A
ANK3 transcript variant X25XM_006717796.3:c.N/AN/A
ANK3 transcript variant X34XM_006717802.3:c.N/AN/A
ANK3 transcript variant X24XM_011539708.2:c.N/AN/A
ANK3 transcript variant X27XM_011539709.2:c.N/AN/A
ANK3 transcript variant X1XM_017016110.1:c.N/AN/A
ANK3 transcript variant X2XM_017016111.1:c.N/AN/A
ANK3 transcript variant X3XM_017016112.1:c.N/AN/A
ANK3 transcript variant X4XM_017016113.1:c.N/AN/A
ANK3 transcript variant X6XM_017016114.1:c.N/AN/A
ANK3 transcript variant X10XM_017016115.1:c.N/AN/A
ANK3 transcript variant X16XM_017016116.1:c.N/AN/A
ANK3 transcript variant X17XM_017016117.1:c.N/AN/A
ANK3 transcript variant X19XM_017016118.1:c.N/AN/A
ANK3 transcript variant X20XM_017016119.1:c.N/AN/A
ANK3 transcript variant X21XM_017016120.1:c.N/AN/A
ANK3 transcript variant X22XM_017016121.1:c.N/AN/A
ANK3 transcript variant X26XM_017016122.1:c.N/AN/A
ANK3 transcript variant X28XM_017016123.1:c.N/AN/A
ANK3 transcript variant X29XM_017016124.1:c.N/AN/A
ANK3 transcript variant X30XM_017016125.1:c.N/AN/A
ANK3 transcript variant X31XM_017016126.1:c.N/AN/A
ANK3 transcript variant X32XM_017016127.1:c.N/AN/A
ANK3 transcript variant X35XM_017016128.1:c.N/AN/A
ANK3 transcript variant X36XM_017016129.1:c.N/AN/A
ANK3 transcript variant X39XM_017016130.1:c.N/AN/A
ANK3 transcript variant X40XM_017016131.1:c.N/AN/A
ANK3 transcript variant X41XM_017016132.1:c.N/AN/A
ANK3 transcript variant X29XM_017016133.1:c.N/AN/A
ANK3 transcript variant X42XM_017016134.1:c.N/AN/A
ANK3 transcript variant X31XM_017016135.1:c.N/AN/A
ANK3 transcript variant X43XM_017016136.1:c.N/AN/A
ANK3 transcript variant X44XM_017016137.1:c.N/AN/A
ANK3 transcript variant X45XM_017016138.1:c.N/AN/A
ANK3 transcript variant X35XM_017016139.1:c.N/AN/A
ANK3 transcript variant X36XM_017016140.1:c.N/AN/A
ANK3 transcript variant X46XM_017016141.1:c.N/AN/A
ANK3 transcript variant X38XM_017016142.1:c.N/AN/A
ANK3 transcript variant X39XM_017016143.1:c.N/AN/A
ANK3 transcript variant X40XM_017016144.1:c.N/AN/A
ANK3 transcript variant X41XM_017016145.1:c.N/AN/A
ANK3 transcript variant X42XM_017016146.1:c.N/AN/A
ANK3 transcript variant X43XM_017016147.1:c.N/AN/A
ANK3 transcript variant X44XM_017016148.1:c.N/AN/A
ANK3 transcript variant X45XM_017016149.1:c.N/AN/A
ANK3 transcript variant X46XM_017016150.1:c.N/AN/A

Gene: LOC105378320, uncharacterized LOC105378320(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378320 transcript variant X1XR_001747686.1:n.N/AIntron Variant
LOC105378320 transcript variant X2XR_001747687.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.981A=0.019
1000GenomesAmericanSub694C=0.920A=0.080
1000GenomesEast AsianSub1008C=0.894A=0.106
1000GenomesEuropeSub1006C=0.807A=0.193
1000GenomesGlobalStudy-wide5008C=0.881A=0.119
1000GenomesSouth AsianSub978C=0.780A=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.826A=0.174
The Genome Aggregation DatabaseAfricanSub8714C=0.957A=0.043
The Genome Aggregation DatabaseAmericanSub836C=0.910A=0.090
The Genome Aggregation DatabaseEast AsianSub1618C=0.890A=0.110
The Genome Aggregation DatabaseEuropeSub18438C=0.814A=0.185
The Genome Aggregation DatabaseGlobalStudy-wide29908C=0.862A=0.137
The Genome Aggregation DatabaseOtherSub302C=0.820A=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.880A=0.119
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.822A=0.178
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
rs19043974.81E-05cocaine dependence23958962

eQTL of rs1904397 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 rs1904397 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 )
chr106254106762541474E07047207
chr106254149762541817E07047637
chr106250226162502620E0718401
chr106250226162502620E0748401



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr106249086262493626E067-234
chr106253772662539398E06843866
chr106253772662539398E06943866
chr106253762562537684E07043765
chr106253772662539398E07043866
chr106253941562539475E07045555
chr106253953962539641E07045679
chr106253964762539920E07045787
chr106253992762540021E07046067
chr106254011262540265E07046252
chr106254030862540358E07046448
chr106249086262493626E071-234
chr106253762562537684E07143765
chr106253772662539398E07143866
chr106249086262493626E072-234
chr106253772662539398E07343866
chr106253772662539398E07443866
chr106253762562537684E08143765
chr106253762562537684E08243765
chr106253772662539398E08243866
chr106253941562539475E08245555
chr106253953962539641E08245679
chr106253964762539920E08245787
chr106253992762540021E08246067
chr106254011262540265E08246252
chr106254030862540358E08246448