rs11639875

Homo sapiens
C>T
NLRC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0063 (1886/29958,GnomAD)
T=0083 (417/5008,1000G)
T=0083 (318/3854,ALSPAC)
T=0077 (284/3708,TWINSUK)
chr16:57079952 (GRCh38.p7) (16q13)
AD
GWASdb2
1   publication(s)
See rs on genome
434 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.57079952C>T
GRCh37.p13 chr 16NC_000016.9:g.57113864C>T
NLRC5 RefSeqGeneNG_030337.1:g.67879C>T

Gene: NLRC5, NLR family, CARD domain containing 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NLRC5 transcript variant 1NM_032206.4:c.N/AIntron Variant
NLRC5 transcript variant X1XM_005256193.2:c.N/AIntron Variant
NLRC5 transcript variant X4XM_005256194.3:c.N/AIntron Variant
NLRC5 transcript variant X5XM_005256195.2:c.N/AIntron Variant
NLRC5 transcript variant X6XM_005256196.2:c.N/AIntron Variant
NLRC5 transcript variant X7XM_005256197.2:c.N/AIntron Variant
NLRC5 transcript variant X2XM_006721297.2:c.N/AIntron Variant
NLRC5 transcript variant X8XM_006721298.2:c.N/AIntron Variant
NLRC5 transcript variant X3XM_011523373.2:c.N/AIntron Variant
NLRC5 transcript variant X21XM_011523376.2:c.N/AIntron Variant
NLRC5 transcript variant X7XM_017023766.1:c.N/AIntron Variant
NLRC5 transcript variant X9XM_017023767.1:c.N/AIntron Variant
NLRC5 transcript variant X10XM_017023768.1:c.N/AIntron Variant
NLRC5 transcript variant X11XM_005256199.3:c.N/AGenic Downstream Transcript Variant
NLRC5 transcript variant X13XM_005256201.3:c.N/AGenic Downstream Transcript Variant
NLRC5 transcript variant X14XM_006721300.2:c.N/AGenic Downstream Transcript Variant
NLRC5 transcript variant X18XM_011523375.2:c.N/AGenic Downstream Transcript Variant
NLRC5 transcript variant X10XM_017023769.1:c.N/AGenic Downstream Transcript Variant
NLRC5 transcript variant X12XM_017023770.1:c.N/AGenic Downstream Transcript Variant
NLRC5 transcript variant X20XM_017023771.1:c.N/AGenic Downstream Transcript Variant
NLRC5 transcript variant X9XR_001751997.1:n.N/AIntron Variant
NLRC5 transcript variant X16XR_001751998.1:n.N/AIntron Variant
NLRC5 transcript variant X18XR_001751999.1:n.N/AIntron Variant
NLRC5 transcript variant X19XR_429734.2:n.N/AIntron Variant
NLRC5 transcript variant X20XR_001752000.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.995T=0.005
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.878T=0.122
1000GenomesEuropeSub1006C=0.922T=0.078
1000GenomesGlobalStudy-wide5008C=0.917T=0.083
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.917T=0.083
The Genome Aggregation DatabaseAfricanSub8726C=0.984T=0.016
The Genome Aggregation DatabaseAmericanSub838C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1620C=0.875T=0.125
The Genome Aggregation DatabaseEuropeSub18472C=0.920T=0.079
The Genome Aggregation DatabaseGlobalStudy-wide29958C=0.937T=0.063
The Genome Aggregation DatabaseOtherSub302C=0.980T=0.020
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.923T=0.077
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
rs116398750.00066alcohol dependence20201924

eQTL of rs11639875 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 rs11639875 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 )
chr165707903157079397E067-34467
chr165707948857080438E067-33426
chr165711778157118676E0673917
chr165712917157129255E06715307
chr165713325657133306E06719392
chr165713529157135331E06721427
chr165713555157135611E06721687
chr165713620957136309E06722345
chr165713693957136992E06723075
chr165713708457137134E06723220
chr165713741557137499E06723551
chr165713752057137694E06723656
chr165713845457138494E06724590
chr165713850057138550E06724636
chr165713858057138695E06724716
chr165713872757138960E06724863
chr165713925657139296E06725392
chr165713952357139603E06725659
chr165713971157139850E06725847
chr165713987857139964E06726014
chr165713998257140304E06726118
chr165714037757140528E06726513
chr165714063157140681E06726767
chr165714079257141345E06726928
chr165714139657141459E06727532
chr165714150257141731E06727638
chr165714614457146451E06732280
chr165714647757146697E06732613
chr165714678657146847E06732922
chr165714701357147327E06733149
chr165714739357147513E06733529
chr165714760357147709E06733739
chr165714772557147822E06733861
chr165714804957148121E06734185
chr165714853657148630E06734672
chr165714895057149124E06735086
chr165714912757150138E06735263
chr165715014357150291E06736279
chr165715054557150695E06736681
chr165715074757150797E06736883
chr165715083957150908E06736975
chr165715129757151449E06737433
chr165715176857151818E06737904
chr165715189357151947E06738029
chr165715757457157657E06743710
chr165716311757163196E06749253
chr165707903157079397E068-34467
chr165707948857080438E068-33426
chr165711746457117514E0683600
chr165711754157117777E0683677
chr165711778157118676E0683917
chr165711868257118853E0684818
chr165712491357125181E06811049
chr165712917157129255E06815307
chr165712940957129459E06815545
chr165712953957129589E06815675
chr165712968557129735E06815821
chr165712982557129865E06815961
chr165713005057130090E06816186
chr165713120157131275E06817337
chr165713128757131402E06817423
chr165713142557131475E06817561
chr165713166757131717E06817803
chr165713180757131933E06817943
chr165713194857132053E06818084
chr165713216557132320E06818301
chr165713247857132573E06818614
chr165713266757132826E06818803
chr165713325657133306E06819392
chr165713620957136309E06822345
chr165713693957136992E06823075
chr165713708457137134E06823220
chr165713741557137499E06823551
chr165713752057137694E06823656
chr165713845457138494E06824590
chr165713850057138550E06824636
chr165713858057138695E06824716
chr165713872757138960E06824863
chr165713900557139089E06825141
chr165713998257140304E06826118
chr165714037757140528E06826513
chr165714063157140681E06826767
chr165714079257141345E06826928
chr165714139657141459E06827532
chr165714150257141731E06827638
chr165714224457142284E06828380
chr165714235257142418E06828488
chr165714258257142846E06828718
chr165714614457146451E06832280
chr165714647757146697E06832613
chr165714678657146847E06832922
chr165714701357147327E06833149
chr165714739357147513E06833529
chr165714760357147709E06833739
chr165714772557147822E06833861
chr165714804957148121E06834185
chr165714853657148630E06834672
chr165714895057149124E06835086
chr165715054557150695E06836681
chr165715074757150797E06836883
chr165715083957150908E06836975
chr165715129757151449E06837433
chr165715176857151818E06837904
chr165715189357151947E06838029
chr165716262657163095E06848762
chr165716311757163196E06849253
chr165711778157118676E0693917
chr165711868257118853E0694818
chr165712917157129255E06915307
chr165712940957129459E06915545
chr165712953957129589E06915675
chr165712968557129735E06915821
chr165712982557129865E06915961
chr165713005057130090E06916186
chr165713120157131275E06917337
chr165713128757131402E06917423
chr165713142557131475E06917561
chr165713166757131717E06917803
chr165713180757131933E06917943
chr165713194857132053E06918084
chr165713216557132320E06918301
chr165713247857132573E06918614
chr165713266757132826E06918803
chr165713325657133306E06919392
chr165713332957133427E06919465
chr165713355557133626E06919691
chr165713400257134436E06920138
chr165713529157135331E06921427
chr165713555157135611E06921687
chr165713620957136309E06922345
chr165713693957136992E06923075
chr165713708457137134E06923220
chr165713741557137499E06923551
chr165713752057137694E06923656
chr165713845457138494E06924590
chr165713850057138550E06924636
chr165713858057138695E06924716
chr165713872757138960E06924863
chr165713900557139089E06925141
chr165713925657139296E06925392
chr165713952357139603E06925659
chr165713971157139850E06925847
chr165713987857139964E06926014
chr165713998257140304E06926118
chr165714037757140528E06926513
chr165714063157140681E06926767
chr165714079257141345E06926928
chr165714139657141459E06927532
chr165714150257141731E06927638
chr165714224457142284E06928380
chr165714235257142418E06928488
chr165714565457145776E06931790
chr165714614457146451E06932280
chr165714647757146697E06932613
chr165714678657146847E06932922
chr165714739357147513E06933529
chr165714760357147709E06933739
chr165714772557147822E06933861
chr165714804957148121E06934185
chr165714853657148630E06934672
chr165715054557150695E06936681
chr165715074757150797E06936883
chr165715083957150908E06936975
chr165715129757151449E06937433
chr165715176857151818E06937904
chr165715189357151947E06938029
chr165715757457157657E06943710
chr165715781457158171E06943950
chr165715826757158378E06944403
chr165716133257161587E06947468
chr165716165857161765E06947794
chr165716191257161957E06948048
chr165716205557162095E06948191
chr165716262657163095E06948762
chr165716311757163196E06949253
chr165707948857080438E070-33426
chr165708045357080517E070-33347
chr165708052557080654E070-33210
chr165708076357080827E070-33037
chr165712826457128503E07014400
chr165712917157129255E07015307
chr165712940957129459E07015545
chr165712953957129589E07015675
chr165713325657133306E07019392
chr165713332957133427E07019465
chr165713693957136992E07023075
chr165713708457137134E07023220
chr165713741557137499E07023551
chr165713752057137694E07023656
chr165714079257141345E07026928
chr165714139657141459E07027532
chr165714150257141731E07027638
chr165715014357150291E07036279
chr165715054557150695E07036681
chr165707948857080438E071-33426
chr165709471157095909E071-17955
chr165711778157118676E0713917
chr165711868257118853E0714818
chr165712940957129459E07115545
chr165712953957129589E07115675
chr165712968557129735E07115821
chr165712982557129865E07115961
chr165713005057130090E07116186
chr165713120157131275E07117337
chr165713128757131402E07117423
chr165713142557131475E07117561
chr165713166757131717E07117803
chr165713180757131933E07117943
chr165713194857132053E07118084
chr165713216557132320E07118301
chr165713247857132573E07118614
chr165713266757132826E07118803
chr165713325657133306E07119392
chr165713332957133427E07119465
chr165713355557133626E07119691
chr165713400257134436E07120138
chr165713529157135331E07121427
chr165713555157135611E07121687
chr165713620957136309E07122345
chr165713693957136992E07123075
chr165713708457137134E07123220
chr165713741557137499E07123551
chr165713752057137694E07123656
chr165713845457138494E07124590
chr165713850057138550E07124636
chr165713858057138695E07124716
chr165713872757138960E07124863
chr165713900557139089E07125141
chr165713925657139296E07125392
chr165713952357139603E07125659
chr165713971157139850E07125847
chr165713987857139964E07126014
chr165713998257140304E07126118
chr165714037757140528E07126513
chr165714063157140681E07126767
chr165714079257141345E07126928
chr165714139657141459E07127532
chr165714150257141731E07127638
chr165714224457142284E07128380
chr165714235257142418E07128488
chr165714258257142846E07128718
chr165714349857144000E07129634
chr165714464857144698E07130784
chr165714472557144855E07130861
chr165714548757145580E07131623
chr165714565457145776E07131790
chr165714614457146451E07132280
chr165714647757146697E07132613
chr165714804957148121E07134185
chr165714853657148630E07134672
chr165715014357150291E07136279
chr165715054557150695E07136681
chr165715074757150797E07136883
chr165715083957150908E07136975
chr165715129757151449E07137433
chr165715176857151818E07137904
chr165715189357151947E07138029
chr165715867757158834E07144813
chr165716165857161765E07147794
chr165716191257161957E07148048
chr165716205557162095E07148191
chr165716262657163095E07148762
chr165716311757163196E07149253
chr165707903157079397E072-34467
chr165709471157095909E072-17955
chr165711778157118676E0723917
chr165711868257118853E0724818
chr165712491357125181E07211049
chr165712917157129255E07215307
chr165713128757131402E07217423
chr165713142557131475E07217561
chr165713166757131717E07217803
chr165713180757131933E07217943
chr165713194857132053E07218084
chr165713216557132320E07218301
chr165713247857132573E07218614
chr165713266757132826E07218803
chr165713325657133306E07219392
chr165713332957133427E07219465
chr165713529157135331E07221427
chr165713555157135611E07221687
chr165713620957136309E07222345
chr165713693957136992E07223075
chr165713708457137134E07223220
chr165713741557137499E07223551
chr165713752057137694E07223656
chr165713845457138494E07224590
chr165713850057138550E07224636
chr165713858057138695E07224716
chr165713872757138960E07224863
chr165713900557139089E07225141
chr165713925657139296E07225392
chr165713952357139603E07225659
chr165713971157139850E07225847
chr165713987857139964E07226014
chr165713998257140304E07226118
chr165714037757140528E07226513
chr165714063157140681E07226767
chr165714079257141345E07226928
chr165714139657141459E07227532
chr165714150257141731E07227638
chr165714224457142284E07228380
chr165714235257142418E07228488
chr165714258257142846E07228718
chr165714565457145776E07231790
chr165714614457146451E07232280
chr165714647757146697E07232613
chr165714678657146847E07232922
chr165714701357147327E07233149
chr165714739357147513E07233529
chr165714760357147709E07233739
chr165714772557147822E07233861
chr165714804957148121E07234185
chr165714853657148630E07234672
chr165715054557150695E07236681
chr165715074757150797E07236883
chr165715083957150908E07236975
chr165715129757151449E07237433
chr165716262657163095E07248762
chr165716311757163196E07249253
chr165711778157118676E0733917
chr165713741557137499E07323551
chr165713752057137694E07323656
chr165713845457138494E07324590
chr165713850057138550E07324636
chr165713858057138695E07324716
chr165713872757138960E07324863
chr165713900557139089E07325141
chr165713925657139296E07325392
chr165713952357139603E07325659
chr165713971157139850E07325847
chr165713987857139964E07326014
chr165713998257140304E07326118
chr165714037757140528E07326513
chr165714063157140681E07326767
chr165714079257141345E07326928
chr165714139657141459E07327532
chr165714150257141731E07327638
chr165714647757146697E07332613
chr165714678657146847E07332922
chr165714701357147327E07333149
chr165714739357147513E07333529
chr165714760357147709E07333739
chr165714772557147822E07333861
chr165714804957148121E07334185
chr165714853657148630E07334672
chr165714895057149124E07335086
chr165715014357150291E07336279
chr165715054557150695E07336681
chr165715074757150797E07336883
chr165715083957150908E07336975
chr165716262657163095E07348762
chr165716311757163196E07349253
chr165707903157079397E074-34467
chr165707948857080438E074-33426
chr165709471157095909E074-17955
chr165711778157118676E0743917
chr165711868257118853E0744818
chr165712917157129255E07415307
chr165713120157131275E07417337
chr165713128757131402E07417423
chr165713142557131475E07417561
chr165713166757131717E07417803
chr165713180757131933E07417943
chr165713194857132053E07418084
chr165713216557132320E07418301
chr165713247857132573E07418614
chr165713266757132826E07418803
chr165713325657133306E07419392
chr165713332957133427E07419465
chr165713355557133626E07419691
chr165713400257134436E07420138
chr165713529157135331E07421427
chr165713555157135611E07421687
chr165713620957136309E07422345
chr165713693957136992E07423075
chr165713708457137134E07423220
chr165713741557137499E07423551
chr165713752057137694E07423656
chr165713845457138494E07424590
chr165713850057138550E07424636
chr165713858057138695E07424716
chr165713872757138960E07424863
chr165713900557139089E07425141
chr165713925657139296E07425392
chr165713952357139603E07425659
chr165713971157139850E07425847
chr165713987857139964E07426014
chr165713998257140304E07426118
chr165714037757140528E07426513
chr165714063157140681E07426767
chr165714079257141345E07426928
chr165714139657141459E07427532
chr165714150257141731E07427638
chr165714224457142284E07428380
chr165714235257142418E07428488
chr165714258257142846E07428718
chr165714565457145776E07431790
chr165714614457146451E07432280
chr165714647757146697E07432613
chr165714678657146847E07432922
chr165714701357147327E07433149
chr165714739357147513E07433529
chr165714760357147709E07433739
chr165714772557147822E07433861
chr165714804957148121E07434185
chr165714853657148630E07434672
chr165714895057149124E07435086
chr165714912757150138E07435263
chr165715014357150291E07436279
chr165715054557150695E07436681
chr165715074757150797E07436883
chr165715083957150908E07436975
chr165715129757151449E07437433
chr165715176857151818E07437904
chr165715189357151947E07438029
chr165715320857153256E07439344
chr165715757457157657E07443710
chr165715781457158171E07443950
chr165715826757158378E07444403
chr165716165857161765E07447794
chr165716191257161957E07448048
chr165716205557162095E07448191
chr165716262657163095E07448762
chr165716311757163196E07449253
chr165712826457128503E08114400
chr165714895057149124E08135086
chr165714912757150138E08135263
chr165715014357150291E08136279
chr165714139657141459E08227532
chr165714150257141731E08227638
chr165714895057149124E08235086
chr165715054557150695E08236681
chr165715074757150797E08236883










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr165712522057127559E06711356
chr165712522057127559E06811356
chr165712522057127559E06911356
chr165712522057127559E07011356
chr165712522057127559E07111356
chr165712522057127559E07211356
chr165712522057127559E07311356
chr165712522057127559E07411356
chr165712522057127559E08211356