rs6007397

Homo sapiens
C>T
PHF21B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0484 (14393/29736,GnomAD)
T=0476 (13862/29114,TOPMED)
T=0371 (1860/5008,1000G)
C==0374 (1443/3854,ALSPAC)
C==0379 (1406/3708,TWINSUK)
chr22:44943320 (GRCh38.p7) (22q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
291 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.44943320C>T
GRCh37.p13 chr 22NC_000022.10:g.45339200C>T

Gene: PHF21B, PHD finger protein 21B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PHF21B transcript variant 2NM_001135862.2:c.N/AIntron Variant
PHF21B transcript variant 3NM_001242450.1:c.N/AIntron Variant
PHF21B transcript variant 4NM_001284296.1:c.N/AIntron Variant
PHF21B transcript variant 1NM_138415.4:c.N/AIntron Variant
PHF21B transcript variant 5NR_134535.1:n.N/AIntron Variant
PHF21B transcript variant X1XM_006724122.1:c.N/AIntron Variant
PHF21B transcript variant X2XM_011529855.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.606T=0.394
1000GenomesAmericanSub694C=0.620T=0.380
1000GenomesEast AsianSub1008C=0.853T=0.147
1000GenomesEuropeSub1006C=0.404T=0.596
1000GenomesGlobalStudy-wide5008C=0.629T=0.371
1000GenomesSouth AsianSub978C=0.670T=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.374T=0.626
The Genome Aggregation DatabaseAfricanSub8674C=0.601T=0.399
The Genome Aggregation DatabaseAmericanSub834C=0.640T=0.360
The Genome Aggregation DatabaseEast AsianSub1620C=0.865T=0.135
The Genome Aggregation DatabaseEuropeSub18308C=0.388T=0.611
The Genome Aggregation DatabaseGlobalStudy-wide29736C=0.484T=0.516
The Genome Aggregation DatabaseOtherSub300C=0.410T=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29114C=0.523T=0.476
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.379T=0.621
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs60073970.000405alcohol consumption (maxi-drinks)24277619

eQTL of rs6007397 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 rs6007397 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 )
chr224532767845327748E067-11452
chr224532999045330044E067-9156
chr224533005945330109E067-9091
chr224533019845330248E067-8952
chr224533182645331995E067-7205
chr224533777945337845E067-1355
chr224533812745338186E067-1014
chr224533818745338263E067-937
chr224533839245338548E067-652
chr224532642345326557E068-12643
chr224532659045326650E068-12550
chr224532666645326750E068-12450
chr224532676245326812E068-12388
chr224532999045330044E068-9156
chr224533005945330109E068-9091
chr224533019845330248E068-8952
chr224533182645331995E068-7205
chr224533777945337845E068-1355
chr224533812745338186E068-1014
chr224533818745338263E068-937
chr224533839245338548E068-652
chr224534277645342826E0683576
chr224534295045343289E0683750
chr224534350045343579E0684300
chr224534373045343790E0684530
chr224534387245343934E0684672
chr224536467945364980E06825479
chr224536501145365153E06825811
chr224536809845368192E06828898
chr224536829545368441E06829095
chr224536858345368709E06829383
chr224536872145368819E06829521
chr224532614045326191E069-13009
chr224532642345326557E069-12643
chr224532659045326650E069-12550
chr224532666645326750E069-12450
chr224532676245326812E069-12388
chr224532696445327472E069-11728
chr224532767845327748E069-11452
chr224532999045330044E069-9156
chr224533005945330109E069-9091
chr224533019845330248E069-8952
chr224533157745331721E069-7479
chr224533182645331995E069-7205
chr224533216245332480E069-6720
chr224533611645336260E069-2940
chr224533627845336449E069-2751
chr224533777945337845E069-1355
chr224533812745338186E069-1014
chr224533818745338263E069-937
chr224533839245338548E069-652
chr224534295045343289E0693750
chr224534350045343579E0694300
chr224538841945388520E06949219
chr224538870945388749E06949509
chr224538882645388992E06949626
chr224532329345323343E070-15857
chr224532344745323614E070-15586
chr224532361945323801E070-15399
chr224532385045323906E070-15294
chr224532410445324256E070-14944
chr224532614045326191E070-13009
chr224532642345326557E070-12643
chr224532659045326650E070-12550
chr224532666645326750E070-12450
chr224532676245326812E070-12388
chr224532811645328166E070-11034
chr224532825545328295E070-10905
chr224532859945328659E070-10541
chr224533486345335082E070-4118
chr224533515645335305E070-3895
chr224533534245335403E070-3797
chr224533563345335683E070-3517
chr224533588945335955E070-3245
chr224533654145336671E070-2529
chr224533686845337389E070-1811
chr224533777945337845E070-1355
chr224533812745338186E070-1014
chr224533818745338263E070-937
chr224533839245338548E070-652
chr224533861045338731E070-469
chr224534054345340660E0701343
chr224534072045341332E0701520
chr224534134645341499E0702146
chr224534165845341708E0702458
chr224534277645342826E0703576
chr224534295045343289E0703750
chr224534350045343579E0704300
chr224534373045343790E0704530
chr224534387245343934E0704672
chr224534896345349185E0709763
chr224534920245349326E07010002
chr224534938245349544E07010182
chr224534963445349837E07010434
chr224534990745349984E07010707
chr224535269645352854E07013496
chr224535286745353135E07013667
chr224535317445353739E07013974
chr224535995945360025E07020759
chr224536018445360234E07020984
chr224536040645360514E07021206
chr224536066845360816E07021468
chr224536111645361156E07021916
chr224536120345361301E07022003
chr224536136945361419E07022169
chr224536829545368441E07029095
chr224536858345368709E07029383
chr224536872145368819E07029521
chr224537063545370685E07031435
chr224537086045370910E07031660
chr224537096645371046E07031766
chr224537119245371854E07031992
chr224537670845376788E07037508
chr224537688945376943E07037689
chr224537702445377136E07037824
chr224537717345377223E07037973
chr224537766845377722E07038468
chr224532582045325860E071-13340
chr224532614045326191E071-13009
chr224532642345326557E071-12643
chr224532659045326650E071-12550
chr224532666645326750E071-12450
chr224532676245326812E071-12388
chr224532696445327472E071-11728
chr224533157745331721E071-7479
chr224533182645331995E071-7205
chr224533216245332480E071-6720
chr224533588945335955E071-3245
chr224533611645336260E071-2940
chr224533627845336449E071-2751
chr224533777945337845E071-1355
chr224533812745338186E071-1014
chr224533818745338263E071-937
chr224533839245338548E071-652
chr224534295045343289E0713750
chr224534350045343579E0714300
chr224536501145365153E07125811
chr224536809845368192E07128898
chr224536829545368441E07129095
chr224536858345368709E07129383
chr224536872145368819E07129521
chr224532696445327472E072-11728
chr224532767845327748E072-11452
chr224533157745331721E072-7479
chr224533182645331995E072-7205
chr224533216245332480E072-6720
chr224533588945335955E072-3245
chr224533611645336260E072-2940
chr224533818745338263E072-937
chr224533839245338548E072-652
chr224534277645342826E0723576
chr224534295045343289E0723750
chr224534350045343579E0724300
chr224534373045343790E0724530
chr224534387245343934E0724672
chr224536467945364980E07225479
chr224536501145365153E07225811
chr224536858345368709E07229383
chr224536872145368819E07229521
chr224532582045325860E073-13340
chr224532614045326191E073-13009
chr224532642345326557E073-12643
chr224532659045326650E073-12550
chr224532666645326750E073-12450
chr224532676245326812E073-12388
chr224532999045330044E073-9156
chr224533157745331721E073-7479
chr224533182645331995E073-7205
chr224533216245332480E073-6720
chr224533534245335403E073-3797
chr224533563345335683E073-3517
chr224533588945335955E073-3245
chr224533611645336260E073-2940
chr224533627845336449E073-2751
chr224533654145336671E073-2529
chr224533777945337845E073-1355
chr224533812745338186E073-1014
chr224533818745338263E073-937
chr224533839245338548E073-652
chr224533861045338731E073-469
chr224533893145339025E073-175
chr224534277645342826E0733576
chr224534295045343289E0733750
chr224534350045343579E0734300
chr224536467945364980E07325479
chr224536501145365153E07325811
chr224536872145368819E07329521
chr224536940445369464E07330204
chr224537702445377136E07337824
chr224532565645325725E074-13475
chr224532582045325860E074-13340
chr224532614045326191E074-13009
chr224532642345326557E074-12643
chr224532659045326650E074-12550
chr224532666645326750E074-12450
chr224532676245326812E074-12388
chr224532696445327472E074-11728
chr224532767845327748E074-11452
chr224532999045330044E074-9156
chr224533005945330109E074-9091
chr224533019845330248E074-8952
chr224533777945337845E074-1355
chr224533812745338186E074-1014
chr224533818745338263E074-937
chr224533839245338548E074-652
chr224534350045343579E0744300
chr224535002745350261E07410827
chr224535029345350457E07411093
chr224535051345350574E07411313
chr224535068545350789E07411485
chr224535096045351149E07411760
chr224532582045325860E081-13340
chr224532614045326191E081-13009
chr224532696445327472E081-11728
chr224532767845327748E081-11452
chr224533157745331721E081-7479
chr224533182645331995E081-7205
chr224533216245332480E081-6720
chr224533486345335082E081-4118
chr224533515645335305E081-3895
chr224533534245335403E081-3797
chr224533563345335683E081-3517
chr224533588945335955E081-3245
chr224533611645336260E081-2940
chr224533627845336449E081-2751
chr224533654145336671E081-2529
chr224533686845337389E081-1811
chr224533777945337845E081-1355
chr224533812745338186E081-1014
chr224533818745338263E081-937
chr224533839245338548E081-652
chr224533861045338731E081-469
chr224533893145339025E081-175
chr224534277645342826E0813576
chr224534295045343289E0813750
chr224534350045343579E0814300
chr224534373045343790E0814530
chr224534387245343934E0814672
chr224534521645345730E0816016
chr224535317445353739E08113974
chr224535413745354339E08114937
chr224536018445360234E08120984
chr224536040645360514E08121206
chr224536066845360816E08121468
chr224536111645361156E08121916
chr224536120345361301E08122003
chr224536136945361419E08122169
chr224536186645361963E08122666
chr224536829545368441E08129095
chr224536858345368709E08129383
chr224536872145368819E08129521
chr224537702445377136E08137824
chr224537717345377223E08137973
chr224533157745331721E082-7479
chr224533182645331995E082-7205
chr224533534245335403E082-3797
chr224533563345335683E082-3517
chr224533588945335955E082-3245
chr224533611645336260E082-2940
chr224533627845336449E082-2751
chr224533654145336671E082-2529
chr224533686845337389E082-1811
chr224533777945337845E082-1355
chr224533812745338186E082-1014
chr224533818745338263E082-937
chr224533839245338548E082-652
chr224533861045338731E082-469
chr224533893145339025E082-175
chr224534072045341332E0821520
chr224534134645341499E0822146
chr224534165845341708E0822458
chr224534277645342826E0823576
chr224534295045343289E0823750
chr224534350045343579E0824300
chr224534373045343790E0824530
chr224534387245343934E0824672
chr224534416245344239E0824962
chr224534963445349837E08210434
chr224534990745349984E08210707
chr224535002745350261E08210827
chr224535029345350457E08211093
chr224535051345350574E08211313
chr224535253745352604E08213337
chr224535269645352854E08213496
chr224535286745353135E08213667
chr224535317445353739E08213974
chr224536809845368192E08228898
chr224537670845376788E08237508
chr224537688945376943E08237689
chr224537702445377136E08237824
chr224537717345377223E08237973