rs4678073

Homo sapiens
A>C / A>T
CCDC14 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0107 (3223/29966,GnomAD)
C=0128 (3728/29118,TOPMED)
A==0083 (1082/13004,GO-ESP)
C=0223 (1115/5008,1000G)
C=0005 (20/3854,ALSPAC)
C=0004 (13/3708,TWINSUK)
chr3:123948677 (GRCh38.p7) (3q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
71 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.123948677A>C
GRCh38.p7 chr 3NC_000003.12:g.123948677A>T
GRCh37.p13 chr 3NC_000003.11:g.123667524A>C
GRCh37.p13 chr 3NC_000003.11:g.123667524A>T

Gene: CCDC14, coiled-coil domain containing 14(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CCDC14 transcript variant 2NM_001308317.1:c.N/AIntron Variant
CCDC14 transcript variant 1NM_022757.4:c.N/AIntron Variant
CCDC14 transcript variant X1XM_005247710.4:c.N/AIntron Variant
CCDC14 transcript variant X3XM_005247711.4:c.N/AIntron Variant
CCDC14 transcript variant X6XM_005247713.2:c.N/AIntron Variant
CCDC14 transcript variant X7XM_005247714.2:c.N/AIntron Variant
CCDC14 transcript variant X9XM_005247715.4:c.N/AIntron Variant
CCDC14 transcript variant X15XM_005247716.4:c.N/AIntron Variant
CCDC14 transcript variant X2XM_006713731.3:c.N/AIntron Variant
CCDC14 transcript variant X11XM_006713733.3:c.N/AIntron Variant
CCDC14 transcript variant X10XM_011513081.2:c.N/AIntron Variant
CCDC14 transcript variant X4XM_017007056.1:c.N/AIntron Variant
CCDC14 transcript variant X5XM_017007057.1:c.N/AIntron Variant
CCDC14 transcript variant X8XM_017007058.1:c.N/AIntron Variant
CCDC14 transcript variant X12XM_017007059.1:c.N/AIntron Variant
CCDC14 transcript variant X13XM_017007060.1:c.N/AIntron Variant
CCDC14 transcript variant X16XM_017007061.1:c.N/AIntron Variant
CCDC14 transcript variant X14XR_001740237.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.721C=0.279
1000GenomesAmericanSub694A=0.690C=0.310
1000GenomesEast AsianSub1008A=0.588C=0.412
1000GenomesEuropeSub1006A=0.985C=0.015
1000GenomesGlobalStudy-wide5008A=0.777C=0.223
1000GenomesSouth AsianSub978A=0.900C=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.995C=0.005
The Genome Aggregation DatabaseAfricanSub8710A=0.774C=0.226
The Genome Aggregation DatabaseAmericanSub838A=0.700C=0.300
The Genome Aggregation DatabaseEast AsianSub1620A=0.583C=0.417
The Genome Aggregation DatabaseEuropeSub18496A=0.982C=0.017
The Genome Aggregation DatabaseGlobalStudy-wide29966A=0.892C=0.107
The Genome Aggregation DatabaseOtherSub302A=0.980C=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.872C=0.128
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.996C=0.004
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs46780733.18E-12alcohol consumptionpha001400

eQTL of rs4678073 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 rs4678073 in Fetal Brain

Probe ID Position Gene beta p-value
cg01448562chr3:133502909-0.05111159749246453.6190e-17
cg08048268chr3:133502702-0.1150910096129696.8731e-17
cg16275903chr3:133524006SRPRB0.05136689013873081.8504e-16
cg16414030chr3:133502952-0.07596268681689181.0901e-15
cg20276088chr3:133502917-0.02999475627321811.1981e-12
cg11941060chr3:133502564-0.05263576123295711.8759e-11
cg08439880chr3:133502540-0.05625314958610094.2001e-11

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 )
chr3133431016133431089E067-34610
chr3133436424133436504E067-29195
chr3133461397133461916E067-3783
chr3133461945133462055E067-3644
chr3133464069133464119E067-1580
chr3133464448133464526E067-1173
chr3133482923133483028E06717224
chr3133483054133483594E06717355
chr3133483998133484070E06718299
chr3133436424133436504E068-29195
chr3133464069133464119E068-1580
chr3133482562133482616E06816863
chr3133482923133483028E06817224
chr3133483054133483594E06817355
chr3133431016133431089E069-34610
chr3133436424133436504E069-29195
chr3133461397133461916E069-3783
chr3133461945133462055E069-3644
chr3133464069133464119E069-1580
chr3133473014133473073E0697315
chr3133473315133473659E0697616
chr3133476260133476458E06910561
chr3133482562133482616E06916863
chr3133482923133483028E06917224
chr3133483054133483594E06917355
chr3133483998133484070E06918299
chr3133484337133484387E06918638
chr3133482923133483028E07017224
chr3133483054133483594E07017355
chr3133431016133431089E071-34610
chr3133436424133436504E071-29195
chr3133461397133461916E071-3783
chr3133461945133462055E071-3644
chr3133464069133464119E071-1580
chr3133473014133473073E0717315
chr3133473315133473659E0717616
chr3133482562133482616E07116863
chr3133482923133483028E07117224
chr3133483054133483594E07117355
chr3133483998133484070E07118299
chr3133484337133484387E07118638
chr3133431016133431089E072-34610
chr3133461397133461916E072-3783
chr3133461945133462055E072-3644
chr3133464069133464119E072-1580
chr3133464448133464526E072-1173
chr3133473014133473073E0727315
chr3133482923133483028E07217224
chr3133483054133483594E07217355
chr3133483998133484070E07218299
chr3133484337133484387E07218638
chr3133436424133436504E073-29195
chr3133461397133461916E073-3783
chr3133461945133462055E073-3644
chr3133464448133464526E073-1173
chr3133482923133483028E07317224
chr3133483054133483594E07317355
chr3133431016133431089E074-34610
chr3133436424133436504E074-29195
chr3133461397133461916E074-3783
chr3133461945133462055E074-3644
chr3133464069133464119E074-1580
chr3133473014133473073E0747315
chr3133473315133473659E0747616
chr3133476260133476458E07410561
chr3133482562133482616E07416863
chr3133482923133483028E07417224
chr3133483054133483594E07417355
chr3133483998133484070E07418299
chr3133484337133484387E07418638
chr3133464448133464526E082-1173









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-547
chr3133465195133465439E067-260
chr3133465691133465761E0670
chr3133468272133468322E0672573
chr3133464975133465152E068-547
chr3133465195133465439E068-260
chr3133465691133465761E0680
chr3133468272133468322E0682573
chr3133464975133465152E069-547
chr3133465195133465439E069-260
chr3133465691133465761E0690
chr3133468272133468322E0692573
chr3133465195133465439E070-260
chr3133464975133465152E071-547
chr3133465195133465439E071-260
chr3133465691133465761E0710
chr3133468272133468322E0712573
chr3133464975133465152E072-547
chr3133465195133465439E072-260
chr3133465691133465761E0720
chr3133468272133468322E0722573
chr3133464975133465152E073-547
chr3133465195133465439E073-260
chr3133465691133465761E0730
chr3133468272133468322E0732573
chr3133464975133465152E074-547
chr3133465195133465439E074-260
chr3133465691133465761E0740
chr3133468272133468322E0742573
chr3133464975133465152E081-547
chr3133464975133465152E082-547
chr3133465195133465439E082-260