rs11200559

Homo sapiens
G>T
BTBD16 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0144 (4330/29974,GnomAD)
T=0130 (3785/29118,TOPMED)
T=0167 (838/5008,1000G)
T=0180 (695/3854,ALSPAC)
T=0183 (677/3708,TWINSUK)
chr10:122337912 (GRCh38.p7) (10q26.13)
AD
GWASdb2
1   publication(s)
See rs on genome
364 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.122337912G>T
GRCh37.p13 chr 10NC_000010.10:g.124097427G>T

Gene: BTBD16, BTB domain containing 16(plus strand)

Molecule type Change Amino acid[Codon] SO Term
BTBD16 transcript variant 1NM_001318189.1:c.N/AIntron Variant
BTBD16 transcript variant 2NM_144587.3:c.N/AIntron Variant
BTBD16 transcript variant X2XM_011539239.2:c.N/AIntron Variant
BTBD16 transcript variant X3XM_011539240.2:c.N/AIntron Variant
BTBD16 transcript variant X4XM_011539241.2:c.N/AIntron Variant
BTBD16 transcript variant X5XM_011539242.2:c.N/AIntron Variant
BTBD16 transcript variant X1XM_017015636.1:c.N/AIntron Variant
BTBD16 transcript variant X6XM_017015637.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.985T=0.015
1000GenomesAmericanSub694G=0.800T=0.200
1000GenomesEast AsianSub1008G=0.736T=0.264
1000GenomesEuropeSub1006G=0.846T=0.154
1000GenomesGlobalStudy-wide5008G=0.833T=0.167
1000GenomesSouth AsianSub978G=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.820T=0.180
The Genome Aggregation DatabaseAfricanSub8730G=0.965T=0.035
The Genome Aggregation DatabaseAmericanSub838G=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1620G=0.715T=0.285
The Genome Aggregation DatabaseEuropeSub18484G=0.820T=0.179
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.855T=0.144
The Genome Aggregation DatabaseOtherSub302G=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.870T=0.130
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.817T=0.183
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs112005598.33E-05alcoholismpha002893

eQTL of rs11200559 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 rs11200559 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 )
chr10124047584124047667E067-49760
chr10124047721124047920E067-49507
chr10124058157124058932E067-38495
chr10124058989124059095E067-38332
chr10124059173124059308E067-38119
chr10124059365124059559E067-37868
chr10124060564124061192E067-36235
chr10124061227124061281E067-36146
chr10124061380124061633E067-35794
chr10124062087124062167E067-35260
chr10124062331124062388E067-35039
chr10124062686124063463E067-33964
chr10124063561124063744E067-33683
chr10124063864124063941E067-33486
chr10124066011124066085E067-31342
chr10124066506124066610E067-30817
chr10124066722124068707E067-28720
chr10124088315124088465E067-8962
chr10124088941124089020E067-8407
chr10124089053124089129E067-8298
chr10124089159124089345E067-8082
chr10124089427124089592E067-7835
chr10124089909124089964E067-7463
chr10124092361124092455E067-4972
chr10124092679124092753E067-4674
chr10124112347124112745E06714920
chr10124112808124112858E06715381
chr10124112975124113015E06715548
chr10124127794124127952E06730367
chr10124127974124128613E06730547
chr10124128773124128863E06731346
chr10124128929124129119E06731502
chr10124129141124129181E06731714
chr10124129687124129775E06732260
chr10124129815124129855E06732388
chr10124129919124129963E06732492
chr10124129979124130189E06732552
chr10124130290124130996E06732863
chr10124131012124131157E06733585
chr10124135756124135825E06738329
chr10124137052124137092E06739625
chr10124057968124058076E068-39351
chr10124058087124058156E068-39271
chr10124058157124058932E068-38495
chr10124058989124059095E068-38332
chr10124061227124061281E068-36146
chr10124061380124061633E068-35794
chr10124062087124062167E068-35260
chr10124062331124062388E068-35039
chr10124062686124063463E068-33964
chr10124063561124063744E068-33683
chr10124066722124068707E068-28720
chr10124087747124087822E068-9605
chr10124088315124088465E068-8962
chr10124088941124089020E068-8407
chr10124089053124089129E068-8298
chr10124089159124089345E068-8082
chr10124089427124089592E068-7835
chr10124089909124089964E068-7463
chr10124090748124091167E068-6260
chr10124092361124092455E068-4972
chr10124092679124092753E068-4674
chr10124101772124102752E0684345
chr10124102825124102924E0685398
chr10124103116124103294E0685689
chr10124103326124104089E0685899
chr10124104233124104808E0686806
chr10124112347124112745E06814920
chr10124112808124112858E06815381
chr10124112975124113015E06815548
chr10124113273124113327E06815846
chr10124113378124113548E06815951
chr10124121639124121696E06824212
chr10124121761124121829E06824334
chr10124121905124121955E06824478
chr10124122199124122554E06824772
chr10124127608124127658E06830181
chr10124128773124128863E06831346
chr10124128929124129119E06831502
chr10124135756124135825E06838329
chr10124136102124136489E06838675
chr10124137052124137092E06839625
chr10124138090124138130E06840663
chr10124138426124138675E06840999
chr10124138808124138874E06841381
chr10124138995124139045E06841568
chr10124139135124139195E06841708
chr10124139768124139814E06842341
chr10124139987124140087E06842560
chr10124140139124140189E06842712
chr10124140200124140254E06842773
chr10124057968124058076E069-39351
chr10124058087124058156E069-39271
chr10124059173124059308E069-38119
chr10124059365124059559E069-37868
chr10124059650124059694E069-37733
chr10124060398124060495E069-36932
chr10124060564124061192E069-36235
chr10124061227124061281E069-36146
chr10124061380124061633E069-35794
chr10124062087124062167E069-35260
chr10124062331124062388E069-35039
chr10124062686124063463E069-33964
chr10124063561124063744E069-33683
chr10124063864124063941E069-33486
chr10124066722124068707E069-28720
chr10124086138124086213E069-11214
chr10124086274124086359E069-11068
chr10124086453124086589E069-10838
chr10124086883124086994E069-10433
chr10124087206124087288E069-10139
chr10124087534124087592E069-9835
chr10124088315124088465E069-8962
chr10124088941124089020E069-8407
chr10124089053124089129E069-8298
chr10124089159124089345E069-8082
chr10124089427124089592E069-7835
chr10124089909124089964E069-7463
chr10124091175124091444E069-5983
chr10124091515124091613E069-5814
chr10124092361124092455E069-4972
chr10124092679124092753E069-4674
chr10124097785124097977E069358
chr10124101772124102752E0694345
chr10124102825124102924E0695398
chr10124103116124103294E0695689
chr10124103326124104089E0695899
chr10124104233124104808E0696806
chr10124104883124105037E0697456
chr10124112347124112745E06914920
chr10124112808124112858E06915381
chr10124112975124113015E06915548
chr10124121639124121696E06924212
chr10124121761124121829E06924334
chr10124121905124121955E06924478
chr10124122199124122554E06924772
chr10124127608124127658E06930181
chr10124127794124127952E06930367
chr10124127974124128613E06930547
chr10124128773124128863E06931346
chr10124128929124129119E06931502
chr10124132563124132641E06935136
chr10124135756124135825E06938329
chr10124136102124136489E06938675
chr10124137052124137092E06939625
chr10124137115124137218E06939688
chr10124137292124137366E06939865
chr10124137652124137755E06940225
chr10124138090124138130E06940663
chr10124138426124138675E06940999
chr10124138808124138874E06941381
chr10124138995124139045E06941568
chr10124139135124139195E06941708
chr10124062686124063463E070-33964
chr10124107098124107240E0709671
chr10124107301124107341E0709874
chr10124107814124107923E07010387
chr10124107976124108915E07010549
chr10124108991124109046E07011564
chr10124127974124128613E07030547
chr10124128773124128863E07031346
chr10124128929124129119E07031502
chr10124135756124135825E07038329
chr10124057968124058076E071-39351
chr10124058087124058156E071-39271
chr10124058157124058932E071-38495
chr10124058989124059095E071-38332
chr10124059173124059308E071-38119
chr10124059365124059559E071-37868
chr10124059650124059694E071-37733
chr10124060398124060495E071-36932
chr10124060564124061192E071-36235
chr10124061227124061281E071-36146
chr10124061380124061633E071-35794
chr10124062087124062167E071-35260
chr10124062331124062388E071-35039
chr10124062686124063463E071-33964
chr10124063561124063744E071-33683
chr10124063864124063941E071-33486
chr10124066011124066085E071-31342
chr10124066506124066610E071-30817
chr10124066722124068707E071-28720
chr10124070755124070920E071-26507
chr10124084467124084525E071-12902
chr10124086138124086213E071-11214
chr10124086274124086359E071-11068
chr10124086453124086589E071-10838
chr10124086883124086994E071-10433
chr10124087206124087288E071-10139
chr10124087534124087592E071-9835
chr10124087747124087822E071-9605
chr10124088315124088465E071-8962
chr10124088941124089020E071-8407
chr10124089053124089129E071-8298
chr10124089159124089345E071-8082
chr10124089427124089592E071-7835
chr10124089909124089964E071-7463
chr10124090748124091167E071-6260
chr10124092361124092455E071-4972
chr10124092679124092753E071-4674
chr10124101772124102752E0714345
chr10124102825124102924E0715398
chr10124103116124103294E0715689
chr10124103326124104089E0715899
chr10124104233124104808E0716806
chr10124107814124107923E07110387
chr10124111594124111683E07114167
chr10124112347124112745E07114920
chr10124112808124112858E07115381
chr10124112975124113015E07115548
chr10124121761124121829E07124334
chr10124121905124121955E07124478
chr10124122199124122554E07124772
chr10124127794124127952E07130367
chr10124128773124128863E07131346
chr10124128929124129119E07131502
chr10124129141124129181E07131714
chr10124129815124129855E07132388
chr10124129919124129963E07132492
chr10124135756124135825E07138329
chr10124136102124136489E07138675
chr10124137652124137755E07140225
chr10124138090124138130E07140663
chr10124138426124138675E07140999
chr10124138808124138874E07141381
chr10124138995124139045E07141568
chr10124139135124139195E07141708
chr10124059173124059308E072-38119
chr10124059365124059559E072-37868
chr10124060398124060495E072-36932
chr10124060564124061192E072-36235
chr10124061227124061281E072-36146
chr10124061380124061633E072-35794
chr10124062087124062167E072-35260
chr10124062331124062388E072-35039
chr10124062686124063463E072-33964
chr10124063561124063744E072-33683
chr10124063864124063941E072-33486
chr10124066011124066085E072-31342
chr10124066722124068707E072-28720
chr10124070755124070920E072-26507
chr10124086138124086213E072-11214
chr10124086274124086359E072-11068
chr10124086453124086589E072-10838
chr10124086883124086994E072-10433
chr10124087206124087288E072-10139
chr10124087534124087592E072-9835
chr10124087747124087822E072-9605
chr10124088315124088465E072-8962
chr10124088941124089020E072-8407
chr10124089053124089129E072-8298
chr10124089159124089345E072-8082
chr10124089427124089592E072-7835
chr10124089909124089964E072-7463
chr10124090748124091167E072-6260
chr10124091175124091444E072-5983
chr10124091515124091613E072-5814
chr10124092361124092455E072-4972
chr10124092679124092753E072-4674
chr10124101772124102752E0724345
chr10124102825124102924E0725398
chr10124103116124103294E0725689
chr10124103326124104089E0725899
chr10124104233124104808E0726806
chr10124107814124107923E07210387
chr10124107976124108915E07210549
chr10124112347124112745E07214920
chr10124112808124112858E07215381
chr10124112975124113015E07215548
chr10124128773124128863E07231346
chr10124128929124129119E07231502
chr10124129141124129181E07231714
chr10124138808124138874E07241381
chr10124138995124139045E07241568
chr10124139135124139195E07241708
chr10124139768124139814E07242341
chr10124139987124140087E07242560
chr10124140139124140189E07242712
chr10124145567124145617E07248140
chr10124145719124145769E07248292
chr10124146013124146102E07248586
chr10124147153124147391E07249726
chr10124047584124047667E073-49760
chr10124047721124047920E073-49507
chr10124058157124058932E073-38495
chr10124058989124059095E073-38332
chr10124060564124061192E073-36235
chr10124061227124061281E073-36146
chr10124061380124061633E073-35794
chr10124062087124062167E073-35260
chr10124062331124062388E073-35039
chr10124066722124068707E073-28720
chr10124102825124102924E0735398
chr10124103116124103294E0735689
chr10124127608124127658E07330181
chr10124127794124127952E07330367
chr10124127974124128613E07330547
chr10124132120124132198E07334693
chr10124132213124132420E07334786
chr10124132563124132641E07335136
chr10124138426124138675E07340999
chr10124047584124047667E074-49760
chr10124047721124047920E074-49507
chr10124047957124048145E074-49282
chr10124057968124058076E074-39351
chr10124058087124058156E074-39271
chr10124058157124058932E074-38495
chr10124058989124059095E074-38332
chr10124059173124059308E074-38119
chr10124059365124059559E074-37868
chr10124059650124059694E074-37733
chr10124060398124060495E074-36932
chr10124060564124061192E074-36235
chr10124061227124061281E074-36146
chr10124061380124061633E074-35794
chr10124062087124062167E074-35260
chr10124062331124062388E074-35039
chr10124062686124063463E074-33964
chr10124063561124063744E074-33683
chr10124063864124063941E074-33486
chr10124064358124064418E074-33009
chr10124066011124066085E074-31342
chr10124066506124066610E074-30817
chr10124066722124068707E074-28720
chr10124086138124086213E074-11214
chr10124086274124086359E074-11068
chr10124086453124086589E074-10838
chr10124086883124086994E074-10433
chr10124087206124087288E074-10139
chr10124087534124087592E074-9835
chr10124087747124087822E074-9605
chr10124088315124088465E074-8962
chr10124088941124089020E074-8407
chr10124089053124089129E074-8298
chr10124089159124089345E074-8082
chr10124089427124089592E074-7835
chr10124089909124089964E074-7463
chr10124090748124091167E074-6260
chr10124091515124091613E074-5814
chr10124092361124092455E074-4972
chr10124092679124092753E074-4674
chr10124101772124102752E0744345
chr10124102825124102924E0745398
chr10124103116124103294E0745689
chr10124103326124104089E0745899
chr10124104233124104808E0746806
chr10124107814124107923E07410387
chr10124107976124108915E07410549
chr10124111594124111683E07414167
chr10124112347124112745E07414920
chr10124112808124112858E07415381
chr10124112975124113015E07415548
chr10124113273124113327E07415846
chr10124113378124113548E07415951
chr10124121639124121696E07424212
chr10124121761124121829E07424334
chr10124121905124121955E07424478
chr10124122199124122554E07424772
chr10124128773124128863E07431346
chr10124128929124129119E07431502
chr10124129141124129181E07431714
chr10124136102124136489E07438675
chr10124135756124135825E08138329
chr10124135756124135825E08238329










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10124132706124135692E06735279
chr10124132706124135692E06835279
chr10124132706124135692E06935279
chr10124132706124135692E07035279
chr10124132706124135692E07135279
chr10124132706124135692E07235279
chr10124132706124135692E07335279
chr10124132706124135692E07435279
chr10124132706124135692E08135279
chr10124132706124135692E08235279