rs74416240

Homo sapiens
G>A
TCHP : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0006 (806/121178,ExAC)
A=0005 (157/29980,GnomAD)
A=0000 (5/29118,TOPMED)
G==0000 (2/13006,GO-ESP)
A=0017 (83/5008,1000G)
A=0001 (3/3854,ALSPAC)
A=0000 (0/3708,TWINSUK)
chr12:109904793 (GRCh38.p7) (12q24.11)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.109904793G>A
GRCh37.p13 chr 12NC_000012.11:g.110342598G>A

Gene: TCHP, trichoplein keratin filament binding(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TCHP transcript variant 1NM_032300.4:c.456G>AE [GAG]> E [GAA]Coding Sequence Variant
trichoplein keratin filament-binding proteinNP_115676.1:p.Glu...NP_115676.1:p.Glu152=E [Glu]> E [Glu]Synonymous Variant
TCHP transcript variant 2NM_001143852.1:c....NM_001143852.1:c.456G>AE [GAG]> E [GAA]Coding Sequence Variant
trichoplein keratin filament-binding proteinNP_001137324.1:p....NP_001137324.1:p.Glu152=E [Glu]> E [Glu]Synonymous Variant
TCHP transcript variant X4XM_017020025.1:c.N/A5 Prime UTR Variant
TCHP transcript variant X1XM_011538836.2:c....XM_011538836.2:c.456G>AE [GAG]> E [GAA]Coding Sequence Variant
trichoplein keratin filament-binding protein isoform X1XP_011537138.1:p....XP_011537138.1:p.Glu152=E [Glu]> E [Glu]Synonymous Variant
TCHP transcript variant X2XM_011538837.2:c....XM_011538837.2:c.456G>AE [GAG]> E [GAA]Coding Sequence Variant
trichoplein keratin filament-binding protein isoform X1XP_011537139.1:p....XP_011537139.1:p.Glu152=E [Glu]> E [Glu]Synonymous Variant
TCHP transcript variant X3XM_017020024.1:c....XM_017020024.1:c.456G>AE [GAG]> E [GAA]Coding Sequence Variant
trichoplein keratin filament-binding protein isoform X2XP_016875513.1:p....XP_016875513.1:p.Glu152=E [Glu]> E [Glu]Synonymous Variant
TCHP transcript variant X5XR_001748901.1:n....XR_001748901.1:n.609G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=1.000A=0.000
1000GenomesAmericanSub694G=1.000A=0.000
1000GenomesEast AsianSub1008G=0.918A=0.082
1000GenomesEuropeSub1006G=1.000A=0.000
1000GenomesGlobalStudy-wide5008G=0.983A=0.017
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.999A=0.001
The Exome Aggregation ConsortiumAmericanSub21950G=0.999A=0.000
The Exome Aggregation ConsortiumAsianSub25070G=0.968A=0.032
The Exome Aggregation ConsortiumEuropeSub73252G=1.000A=0.000
The Exome Aggregation ConsortiumGlobalStudy-wide121178G=0.993A=0.006
The Exome Aggregation ConsortiumOtherSub906G=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8730G=1.000A=0.000
The Genome Aggregation DatabaseAmericanSub838G=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1612G=0.903A=0.097
The Genome Aggregation DatabaseEuropeSub18498G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29980G=0.994A=0.005
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.999A=0.000
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
PMID Title Author Journal
23555315Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.Haiman CAPLoS Genet

P-Value

SNP ID p-value Traits Study
rs744162402.15E-25alcohol (ever vs. never)23555315

eQTL of rs74416240 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 rs74416240 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 )
chr12110296517110296608E067-45990
chr12110296666110296926E067-45672
chr12110298605110298874E067-43724
chr12110298914110299077E067-43521
chr12110299156110299196E067-43402
chr12110299430110299480E067-43118
chr12110299552110299864E067-42734
chr12110299980110300052E067-42546
chr12110300064110300114E067-42484
chr12110300259110300328E067-42270
chr12110300390110300543E067-42055
chr12110301358110301408E067-41190
chr12110301540110301590E067-41008
chr12110301686110301999E067-40599
chr12110302026110302609E067-39989
chr12110302767110303075E067-39523
chr12110303396110303436E067-39162
chr12110303655110303713E067-38885
chr12110304056110304149E067-38449
chr12110304198110304276E067-38322
chr12110304621110304661E067-37937
chr12110306206110306842E067-35756
chr12110308550110308843E067-33755
chr12110308858110309003E067-33595
chr12110309185110309374E067-33224
chr12110309416110309583E067-33015
chr12110309689110310287E067-32311
chr12110310347110310397E067-32201
chr12110310407110310457E067-32141
chr12110312047110312114E067-30484
chr12110312462110312512E067-30086
chr12110312872110312992E067-29606
chr12110313227110313321E067-29277
chr12110313323110313775E067-28823
chr12110314195110314271E067-28327
chr12110314588110314638E067-27960
chr12110314691110314741E067-27857
chr12110339525110339575E067-3023
chr12110370723110371221E06728125
chr12110374725110375215E06732127
chr12110375247110375509E06732649
chr12110384359110384740E06741761
chr12110384816110384898E06742218
chr12110384984110385156E06742386
chr12110385205110385361E06742607
chr12110385394110385909E06742796
chr12110386003110386065E06743405
chr12110386088110387359E06743490
chr12110298605110298874E068-43724
chr12110298914110299077E068-43521
chr12110299156110299196E068-43402
chr12110299430110299480E068-43118
chr12110299552110299864E068-42734
chr12110299980110300052E068-42546
chr12110300064110300114E068-42484
chr12110300259110300328E068-42270
chr12110300390110300543E068-42055
chr12110301115110301186E068-41412
chr12110301293110301343E068-41255
chr12110301358110301408E068-41190
chr12110301540110301590E068-41008
chr12110301686110301999E068-40599
chr12110302026110302609E068-39989
chr12110302767110303075E068-39523
chr12110303396110303436E068-39162
chr12110303655110303713E068-38885
chr12110304056110304149E068-38449
chr12110304198110304276E068-38322
chr12110308550110308843E068-33755
chr12110308858110309003E068-33595
chr12110309185110309374E068-33224
chr12110309416110309583E068-33015
chr12110309689110310287E068-32311
chr12110310347110310397E068-32201
chr12110310407110310457E068-32141
chr12110311844110311907E068-30691
chr12110312047110312114E068-30484
chr12110313227110313321E068-29277
chr12110313323110313775E068-28823
chr12110314195110314271E068-28327
chr12110314588110314638E068-27960
chr12110314691110314741E068-27857
chr12110367523110367794E06824925
chr12110374725110375215E06832127
chr12110375247110375509E06832649
chr12110382717110383304E06840119
chr12110384359110384740E06841761
chr12110384816110384898E06842218
chr12110384984110385156E06842386
chr12110385205110385361E06842607
chr12110385394110385909E06842796
chr12110386003110386065E06843405
chr12110386088110387359E06843490
chr12110390249110390569E06847651
chr12110390638110390711E06848040
chr12110298605110298874E069-43724
chr12110298914110299077E069-43521
chr12110299156110299196E069-43402
chr12110299430110299480E069-43118
chr12110299552110299864E069-42734
chr12110299980110300052E069-42546
chr12110300064110300114E069-42484
chr12110300259110300328E069-42270
chr12110300390110300543E069-42055
chr12110301115110301186E069-41412
chr12110301686110301999E069-40599
chr12110302026110302609E069-39989
chr12110302767110303075E069-39523
chr12110303396110303436E069-39162
chr12110303655110303713E069-38885
chr12110304056110304149E069-38449
chr12110304198110304276E069-38322
chr12110304621110304661E069-37937
chr12110305324110305417E069-37181
chr12110305601110305655E069-36943
chr12110305964110306063E069-36535
chr12110306206110306842E069-35756
chr12110307181110307244E069-35354
chr12110308550110308843E069-33755
chr12110308858110309003E069-33595
chr12110309185110309374E069-33224
chr12110309416110309583E069-33015
chr12110309689110310287E069-32311
chr12110310347110310397E069-32201
chr12110310407110310457E069-32141
chr12110311844110311907E069-30691
chr12110312047110312114E069-30484
chr12110312462110312512E069-30086
chr12110312872110312992E069-29606
chr12110313227110313321E069-29277
chr12110313323110313775E069-28823
chr12110314195110314271E069-28327
chr12110314588110314638E069-27960
chr12110314691110314741E069-27857
chr12110315026110315099E069-27499
chr12110327187110328082E069-14516
chr12110328177110328243E069-14355
chr12110328565110328824E069-13774
chr12110339525110339575E069-3023
chr12110339615110339748E069-2850
chr12110370723110371221E06928125
chr12110374725110375215E06932127
chr12110375247110375509E06932649
chr12110382717110383304E06940119
chr12110384359110384740E06941761
chr12110384816110384898E06942218
chr12110384984110385156E06942386
chr12110385205110385361E06942607
chr12110385394110385909E06942796
chr12110386003110386065E06943405
chr12110386088110387359E06943490
chr12110314588110314638E070-27960
chr12110314691110314741E070-27857
chr12110315026110315099E070-27499
chr12110325789110325871E070-16727
chr12110326940110326990E070-15608
chr12110327187110328082E070-14516
chr12110328177110328243E070-14355
chr12110328565110328824E070-13774
chr12110328896110329018E070-13580
chr12110293289110293329E071-49269
chr12110293344110293394E071-49204
chr12110293664110293714E071-48884
chr12110293834110293898E071-48700
chr12110294140110294180E071-48418
chr12110294309110294365E071-48233
chr12110294943110295038E071-47560
chr12110295123110295163E071-47435
chr12110295178110295253E071-47345
chr12110298605110298874E071-43724
chr12110298914110299077E071-43521
chr12110299156110299196E071-43402
chr12110299430110299480E071-43118
chr12110299552110299864E071-42734
chr12110300259110300328E071-42270
chr12110300390110300543E071-42055
chr12110301115110301186E071-41412
chr12110302026110302609E071-39989
chr12110302767110303075E071-39523
chr12110303396110303436E071-39162
chr12110303655110303713E071-38885
chr12110304056110304149E071-38449
chr12110304198110304276E071-38322
chr12110304621110304661E071-37937
chr12110305324110305417E071-37181
chr12110305601110305655E071-36943
chr12110305964110306063E071-36535
chr12110306206110306842E071-35756
chr12110308550110308843E071-33755
chr12110308858110309003E071-33595
chr12110309185110309374E071-33224
chr12110309416110309583E071-33015
chr12110309689110310287E071-32311
chr12110310347110310397E071-32201
chr12110310407110310457E071-32141
chr12110311554110311796E071-30802
chr12110311844110311907E071-30691
chr12110312047110312114E071-30484
chr12110312462110312512E071-30086
chr12110312872110312992E071-29606
chr12110313227110313321E071-29277
chr12110313323110313775E071-28823
chr12110314195110314271E071-28327
chr12110314588110314638E071-27960
chr12110314691110314741E071-27857
chr12110327187110328082E071-14516
chr12110339525110339575E071-3023
chr12110339615110339748E071-2850
chr12110370259110370691E07127661
chr12110370723110371221E07128125
chr12110374725110375215E07132127
chr12110375247110375509E07132649
chr12110384359110384740E07141761
chr12110384816110384898E07142218
chr12110384984110385156E07142386
chr12110385205110385361E07142607
chr12110385394110385909E07142796
chr12110386003110386065E07143405
chr12110386088110387359E07143490
chr12110294943110295038E072-47560
chr12110295123110295163E072-47435
chr12110295178110295253E072-47345
chr12110295770110295810E072-46788
chr12110295823110295939E072-46659
chr12110296097110296179E072-46419
chr12110296240110296290E072-46308
chr12110296309110296363E072-46235
chr12110296399110296463E072-46135
chr12110296517110296608E072-45990
chr12110296666110296926E072-45672
chr12110298605110298874E072-43724
chr12110298914110299077E072-43521
chr12110299156110299196E072-43402
chr12110299430110299480E072-43118
chr12110299552110299864E072-42734
chr12110299980110300052E072-42546
chr12110300064110300114E072-42484
chr12110300259110300328E072-42270
chr12110300390110300543E072-42055
chr12110301115110301186E072-41412
chr12110301686110301999E072-40599
chr12110302026110302609E072-39989
chr12110302767110303075E072-39523
chr12110303396110303436E072-39162
chr12110303655110303713E072-38885
chr12110304056110304149E072-38449
chr12110304198110304276E072-38322
chr12110304621110304661E072-37937
chr12110305324110305417E072-37181
chr12110305601110305655E072-36943
chr12110305964110306063E072-36535
chr12110308550110308843E072-33755
chr12110308858110309003E072-33595
chr12110309185110309374E072-33224
chr12110309416110309583E072-33015
chr12110309689110310287E072-32311
chr12110310347110310397E072-32201
chr12110310407110310457E072-32141
chr12110311554110311796E072-30802
chr12110311844110311907E072-30691
chr12110312047110312114E072-30484
chr12110313227110313321E072-29277
chr12110313323110313775E072-28823
chr12110339615110339748E072-2850
chr12110370723110371221E07228125
chr12110374725110375215E07232127
chr12110375247110375509E07232649
chr12110384359110384740E07241761
chr12110384816110384898E07242218
chr12110384984110385156E07242386
chr12110385205110385361E07242607
chr12110385394110385909E07242796
chr12110386003110386065E07243405
chr12110386088110387359E07243490
chr12110294943110295038E073-47560
chr12110295123110295163E073-47435
chr12110295178110295253E073-47345
chr12110299156110299196E073-43402
chr12110299552110299864E073-42734
chr12110299980110300052E073-42546
chr12110300064110300114E073-42484
chr12110301293110301343E073-41255
chr12110301358110301408E073-41190
chr12110301540110301590E073-41008
chr12110301686110301999E073-40599
chr12110302026110302609E073-39989
chr12110302767110303075E073-39523
chr12110304056110304149E073-38449
chr12110304198110304276E073-38322
chr12110306206110306842E073-35756
chr12110309416110309583E073-33015
chr12110309689110310287E073-32311
chr12110310347110310397E073-32201
chr12110311554110311796E073-30802
chr12110311844110311907E073-30691
chr12110312047110312114E073-30484
chr12110313227110313321E073-29277
chr12110313323110313775E073-28823
chr12110314195110314271E073-28327
chr12110314588110314638E073-27960
chr12110314691110314741E073-27857
chr12110315026110315099E073-27499
chr12110374725110375215E07332127
chr12110375247110375509E07332649
chr12110384359110384740E07341761
chr12110384816110384898E07342218
chr12110384984110385156E07342386
chr12110385205110385361E07342607
chr12110385394110385909E07342796
chr12110386003110386065E07343405
chr12110386088110387359E07343490
chr12110293664110293714E074-48884
chr12110293834110293898E074-48700
chr12110295123110295163E074-47435
chr12110296097110296179E074-46419
chr12110296240110296290E074-46308
chr12110296309110296363E074-46235
chr12110296399110296463E074-46135
chr12110296517110296608E074-45990
chr12110296666110296926E074-45672
chr12110298605110298874E074-43724
chr12110298914110299077E074-43521
chr12110299156110299196E074-43402
chr12110299430110299480E074-43118
chr12110299552110299864E074-42734
chr12110299980110300052E074-42546
chr12110300259110300328E074-42270
chr12110300390110300543E074-42055
chr12110301115110301186E074-41412
chr12110301293110301343E074-41255
chr12110301358110301408E074-41190
chr12110301540110301590E074-41008
chr12110301686110301999E074-40599
chr12110302026110302609E074-39989
chr12110302767110303075E074-39523
chr12110303396110303436E074-39162
chr12110303655110303713E074-38885
chr12110304056110304149E074-38449
chr12110304198110304276E074-38322
chr12110305964110306063E074-36535
chr12110306206110306842E074-35756
chr12110308550110308843E074-33755
chr12110308858110309003E074-33595
chr12110309185110309374E074-33224
chr12110309416110309583E074-33015
chr12110309689110310287E074-32311
chr12110310347110310397E074-32201
chr12110310407110310457E074-32141
chr12110311554110311796E074-30802
chr12110311844110311907E074-30691
chr12110312047110312114E074-30484
chr12110312462110312512E074-30086
chr12110312872110312992E074-29606
chr12110313227110313321E074-29277
chr12110313323110313775E074-28823
chr12110314195110314271E074-28327
chr12110314588110314638E074-27960
chr12110314691110314741E074-27857
chr12110315026110315099E074-27499
chr12110339525110339575E074-3023
chr12110339615110339748E074-2850
chr12110369903110369953E07427305
chr12110370259110370691E07427661
chr12110370723110371221E07428125
chr12110374725110375215E07432127
chr12110375247110375509E07432649
chr12110382717110383304E07440119
chr12110384359110384740E07441761
chr12110384816110384898E07442218
chr12110384984110385156E07442386
chr12110385205110385361E07442607
chr12110385394110385909E07442796
chr12110386003110386065E07443405
chr12110386088110387359E07443490
chr12110315403110315965E081-26633
chr12110316228110316367E081-26231
chr12110326940110326990E081-15608
chr12110327187110328082E081-14516
chr12110328177110328243E081-14355
chr12110328565110328824E081-13774
chr12110328896110329018E081-13580
chr12110315403110315965E082-26633
chr12110316051110316131E082-26467
chr12110316228110316367E082-26231
chr12110316383110316501E082-26097
chr12110316502110316572E082-26026
chr12110327187110328082E082-14516
chr12110328177110328243E082-14355
chr12110328565110328824E082-13774










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12110316577110319636E067-22962
chr12110337667110339338E067-3260
chr12110316577110319636E068-22962
chr12110337667110339338E068-3260
chr12110316577110319636E069-22962
chr12110337667110339338E069-3260
chr12110316577110319636E070-22962
chr12110337667110339338E070-3260
chr12110316577110319636E071-22962
chr12110337667110339338E071-3260
chr12110316577110319636E072-22962
chr12110337667110339338E072-3260
chr12110316577110319636E073-22962
chr12110337667110339338E073-3260
chr12110316577110319636E074-22962
chr12110337667110339338E074-3260
chr12110316577110319636E081-22962
chr12110337667110339338E081-3260
chr12110316577110319636E082-22962
chr12110337667110339338E082-3260