rs4939747

Homo sapiens
C>T
ZBTB7C : Intron Variant
LOC105372104 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0206 (6176/29926,GnomAD)
T=0220 (6424/29118,TOPMED)
T=0180 (901/5008,1000G)
T=0143 (551/3854,ALSPAC)
T=0141 (524/3708,TWINSUK)
chr18:48162470 (GRCh38.p7) (18q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
111 Enhancers around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.48162470C>T
GRCh37.p13 chr 18NC_000018.9:g.45688841C>T

Gene: ZBTB7C, zinc finger and BTB domain containing 7C(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ZBTB7C transcript variant 1NM_001318841.1:c.N/AIntron Variant
ZBTB7C transcript variant 2NM_001039360.2:c.N/AGenic Upstream Transcript Variant
ZBTB7C transcript variant X13XM_005258229.4:c.N/AIntron Variant
ZBTB7C transcript variant X1XM_011525861.2:c.N/AIntron Variant
ZBTB7C transcript variant X5XM_011525863.2:c.N/AIntron Variant
ZBTB7C transcript variant X6XM_011525864.2:c.N/AIntron Variant
ZBTB7C transcript variant X7XM_011525865.2:c.N/AIntron Variant
ZBTB7C transcript variant X8XM_011525866.2:c.N/AIntron Variant
ZBTB7C transcript variant X9XM_011525867.2:c.N/AIntron Variant
ZBTB7C transcript variant X10XM_011525869.2:c.N/AIntron Variant
ZBTB7C transcript variant X12XM_011525870.2:c.N/AIntron Variant
ZBTB7C transcript variant X2XM_017025605.1:c.N/AIntron Variant
ZBTB7C transcript variant X3XM_017025606.1:c.N/AIntron Variant
ZBTB7C transcript variant X4XM_017025607.1:c.N/AIntron Variant
ZBTB7C transcript variant X10XM_017025608.1:c.N/AIntron Variant
ZBTB7C transcript variant X12XM_017025609.1:c.N/AIntron Variant
ZBTB7C transcript variant X14XM_011525871.2:c.N/AGenic Upstream Transcript Variant

Gene: LOC105372104, uncharacterized LOC105372104(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105372104 transcript variant X3XR_001753439.1:n....XR_001753439.1:n.477C>TC>TNon Coding Transcript Variant
LOC105372104 transcript variant X2XR_001753437.1:n.N/AGenic Upstream Transcript Variant
LOC105372104 transcript variant X3XR_001753438.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.654T=0.346
1000GenomesAmericanSub694C=0.720T=0.280
1000GenomesEast AsianSub1008C=0.907T=0.093
1000GenomesEuropeSub1006C=0.870T=0.130
1000GenomesGlobalStudy-wide5008C=0.820T=0.180
1000GenomesSouth AsianSub978C=0.980T=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.857T=0.143
The Genome Aggregation DatabaseAfricanSub8706C=0.683T=0.317
The Genome Aggregation DatabaseAmericanSub834C=0.700T=0.300
The Genome Aggregation DatabaseEast AsianSub1618C=0.920T=0.080
The Genome Aggregation DatabaseEuropeSub18466C=0.838T=0.161
The Genome Aggregation DatabaseGlobalStudy-wide29926C=0.793T=0.206
The Genome Aggregation DatabaseOtherSub302C=0.810T=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.779T=0.220
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.859T=0.141
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs49397470.00075alcohol dependence20201924

eQTL of rs4939747 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 rs4939747 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 )
chr184571240045713204E06723559
chr184571985745720888E06731016
chr184572091245720962E06732071
chr184572100945721366E06732168
chr184566683945666889E068-21952
chr184566693045667025E068-21816
chr184569330745694799E0684466
chr184571240045713204E06823559
chr184571325745713707E06824416
chr184571985745720888E06831016
chr184572091245720962E06832071
chr184572100945721366E06832168
chr184572231245722409E06833471
chr184568705845687247E069-1594
chr184568920945689269E069368
chr184568930445689584E069463
chr184568964845690313E069807
chr184571240045713204E06923559
chr184571325745713707E06924416
chr184564952845649611E070-39230
chr184564962845649711E070-39130
chr184564978345649878E070-38963
chr184564987945650084E070-38757
chr184565040545650449E070-38392
chr184565046445650515E070-38326
chr184565060645650703E070-38138
chr184566073545660870E070-27971
chr184566099245661054E070-27787
chr184566113845661221E070-27620
chr184566125745661337E070-27504
chr184566139345661475E070-27366
chr184566683945666889E070-21952
chr184566693045667025E070-21816
chr184566722145667693E070-21148
chr184566777445667876E070-20965
chr184566791345667953E070-20888
chr184566818545668258E070-20583
chr184566841645668466E070-20375
chr184566848345668537E070-20304
chr184566874145668890E070-19951
chr184571142145711479E07022580
chr184571150045711652E07022659
chr184571175045711874E07022909
chr184571212645712198E07023285
chr184571233545712394E07023494
chr184571325745713707E07024416
chr184564952845649611E071-39230
chr184564962845649711E071-39130
chr184564978345649878E071-38963
chr184568645545686536E071-2305
chr184568671245686825E071-2016
chr184568688145686965E071-1876
chr184568705845687247E071-1594
chr184571240045713204E07123559
chr184571325745713707E07124416
chr184571985745720888E07131016
chr184572091245720962E07132071
chr184572100945721366E07132168
chr184568920945689269E072368
chr184568930445689584E072463
chr184568964845690313E072807
chr184571240045713204E07223559
chr184571325745713707E07224416
chr184571985745720888E07231016
chr184572091245720962E07232071
chr184572100945721366E07232168
chr184572231245722409E07233471
chr184564962845649711E073-39130
chr184564978345649878E073-38963
chr184564987945650084E073-38757
chr184565040545650449E073-38392
chr184565046445650515E073-38326
chr184568920945689269E073368
chr184568930445689584E073463
chr184569321445693264E0734373
chr184571233545712394E07323494
chr184571240045713204E07323559
chr184571325745713707E07324416
chr184571985745720888E07331016
chr184572091245720962E07332071
chr184572100945721366E07332168
chr184566514845666802E074-22039
chr184566683945666889E074-21952
chr184566693045667025E074-21816
chr184566777445667876E074-20965
chr184566791345667953E074-20888
chr184568920945689269E074368
chr184568930445689584E074463
chr184569321445693264E0744373
chr184569330745694799E0744466
chr184571985745720888E07431016
chr184572091245720962E07432071
chr184572100945721366E07432168
chr184568705845687247E081-1594
chr184569052345691003E0811682
chr184571142145711479E08122580
chr184571150045711652E08122659
chr184571175045711874E08122909
chr184571212645712198E08123285
chr184571233545712394E08123494
chr184571240045713204E08123559
chr184571325745713707E08124416
chr184564952845649611E082-39230
chr184564962845649711E082-39130
chr184564978345649878E082-38963
chr184564987945650084E082-38757
chr184568920945689269E082368
chr184568930445689584E082463
chr184571212645712198E08223285
chr184571233545712394E08223494
chr184571325745713707E08224416










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr184566223045662384E067-26457
chr184568733145689190E0670
chr184566207045662139E068-26702
chr184566223045662384E068-26457
chr184566243545664531E068-24310
chr184568733145689190E0680
chr184566223045662384E069-26457
chr184568733145689190E0690
chr184568733145689190E0700
chr184566243545664531E071-24310
chr184568733145689190E0710
chr184568733145689190E0720
chr184566207045662139E073-26702
chr184566223045662384E073-26457
chr184566243545664531E073-24310
chr184568733145689190E0730
chr184566223045662384E074-26457
chr184566243545664531E074-24310
chr184568733145689190E0740
chr184566243545664531E082-24310
chr184568733145689190E0820