rs16930094

Homo sapiens
C>T
ELF5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0115 (3473/29962,GnomAD)
T=0129 (3762/29118,TOPMED)
T=0129 (646/5008,1000G)
T=0107 (411/3854,ALSPAC)
T=0096 (356/3708,TWINSUK)
chr11:34500102 (GRCh38.p7) (11p13)
ND
GWASdb2
1   publication(s)
See rs on genome
46 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.34500102C>T
GRCh37.p13 chr 11NC_000011.9:g.34521649C>T
ELF5 RefSeqGeneNG_029477.1:g.18699G>A

Gene: ELF5, E74 like ETS transcription factor 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ELF5 transcript variant 3NM_001243080.1:c.N/AIntron Variant
ELF5 transcript variant 4NM_001243081.1:c.N/AIntron Variant
ELF5 transcript variant 2NM_001422.3:c.N/AIntron Variant
ELF5 transcript variant 1NM_198381.1:c.N/AIntron Variant
ELF5 transcript variant X1XM_017017308.1:c.N/AIntron Variant
ELF5 transcript variant X2XM_017017309.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.874T=0.126
1000GenomesAmericanSub694C=0.890T=0.110
1000GenomesEast AsianSub1008C=0.731T=0.269
1000GenomesEuropeSub1006C=0.899T=0.101
1000GenomesGlobalStudy-wide5008C=0.871T=0.129
1000GenomesSouth AsianSub978C=0.970T=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.893T=0.107
The Genome Aggregation DatabaseAfricanSub8726C=0.873T=0.127
The Genome Aggregation DatabaseAmericanSub836C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1616C=0.729T=0.271
The Genome Aggregation DatabaseEuropeSub18482C=0.901T=0.098
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.884T=0.115
The Genome Aggregation DatabaseOtherSub302C=0.910T=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.870T=0.129
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.904T=0.096
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs169300940.000361nicotine dependence17158188

eQTL of rs16930094 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 rs16930094 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 )
chr113451427234514678E067-6971
chr113456787034567924E06746221
chr113456813734568281E06746488
chr113456836034568504E06746711
chr113456854634568626E06746897
chr113447611334476163E068-45486
chr113447632034476483E068-45166
chr113447658534477021E068-44628
chr113452298134523082E0681332
chr113452308534523857E0681436
chr113452399034524040E0682341
chr113456787034567924E06846221
chr113456813734568281E06846488
chr113456836034568504E06846711
chr113456854634568626E06846897
chr113451427234514678E069-6971
chr113456787034567924E06946221
chr113456813734568281E06946488
chr113456836034568504E06946711
chr113456854634568626E06946897
chr113451427234514678E071-6971
chr113451482334514901E071-6748
chr113451497934515029E071-6620
chr113453486934535160E07113220
chr113453517634535674E07113527
chr113453585734535950E07114208
chr113453596434536021E07114315
chr113456787034567924E07146221
chr113456813734568281E07146488
chr113456836034568504E07146711
chr113456854634568626E07146897
chr113457038834570440E07148739
chr113457047734570517E07148828
chr113456787034567924E07246221
chr113456813734568281E07246488
chr113456836034568504E07246711
chr113456854634568626E07246897
chr113456787034567924E07346221
chr113456813734568281E07346488
chr113456787034567924E07446221
chr113456813734568281E07446488
chr113456836034568504E07446711
chr113456854634568626E07446897
chr113457012534570229E07448476
chr113457038834570440E07448739
chr113457047734570517E07448828