rs11244096

Homo sapiens
G>A
PRDM12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0222 (6663/29908,GnomAD)
A=0200 (5825/29118,TOPMED)
A=0255 (1276/5008,1000G)
A=0290 (1116/3854,ALSPAC)
A=0293 (1085/3708,TWINSUK)
chr9:130675957 (GRCh38.p7) (9q34.12)
ND
GWASdb2
1   publication(s)
See rs on genome
113 Enhancers around
47 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.130675957G>A
GRCh37.p13 chr 9NC_000009.11:g.133551344G>A

Gene: PRDM12, PR domain 12(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRDM12 transcriptNM_021619.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.983A=0.017
1000GenomesAmericanSub694G=0.630A=0.370
1000GenomesEast AsianSub1008G=0.585A=0.415
1000GenomesEuropeSub1006G=0.693A=0.307
1000GenomesGlobalStudy-wide5008G=0.745A=0.255
1000GenomesSouth AsianSub978G=0.730A=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.710A=0.290
The Genome Aggregation DatabaseAfricanSub8720G=0.949A=0.051
The Genome Aggregation DatabaseAmericanSub838G=0.680A=0.320
The Genome Aggregation DatabaseEast AsianSub1618G=0.549A=0.451
The Genome Aggregation DatabaseEuropeSub18432G=0.720A=0.279
The Genome Aggregation DatabaseGlobalStudy-wide29908G=0.777A=0.222
The Genome Aggregation DatabaseOtherSub300G=0.770A=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.800A=0.200
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.707A=0.293
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs112440962.38E-05alcohol and nictotine co-dependence20158304

eQTL of rs11244096 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 rs11244096 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 )
chr9133570717133570761E06719373
chr9133570765133570979E06719421
chr9133577122133577305E06725778
chr9133577360133577415E06726016
chr9133505553133505680E068-45664
chr9133505724133505986E068-45358
chr9133506080133506162E068-45182
chr9133570717133570761E06819373
chr9133570765133570979E06819421
chr9133576167133576217E06824823
chr9133576239133576315E06824895
chr9133576356133577051E06825012
chr9133577122133577305E06825778
chr9133577360133577415E06826016
chr9133587500133587575E06836156
chr9133570717133570761E06919373
chr9133570765133570979E06919421
chr9133576356133577051E06925012
chr9133577122133577305E06925778
chr9133577360133577415E06926016
chr9133577468133577536E06926124
chr9133513728133513831E070-37513
chr9133513876133514038E070-37306
chr9133514208133514305E070-37039
chr9133514324133514492E070-36852
chr9133514557133514802E070-36542
chr9133514809133515021E070-36323
chr9133515061133515115E070-36229
chr9133550899133551162E070-182
chr9133570765133570979E07019421
chr9133571055133571201E07019711
chr9133571605133571655E07020261
chr9133571669133571787E07020325
chr9133571794133571903E07020450
chr9133572360133572430E07021016
chr9133576356133577051E07025012
chr9133577122133577305E07025778
chr9133577360133577415E07026016
chr9133577468133577536E07026124
chr9133577603133577669E07026259
chr9133501405133501497E071-49847
chr9133505184133505461E071-45883
chr9133505553133505680E071-45664
chr9133505724133505986E071-45358
chr9133506080133506162E071-45182
chr9133570717133570761E07119373
chr9133570765133570979E07119421
chr9133576167133576217E07124823
chr9133576239133576315E07124895
chr9133576356133577051E07125012
chr9133577122133577305E07125778
chr9133577360133577415E07126016
chr9133591956133592026E07140612
chr9133506080133506162E072-45182
chr9133570765133570979E07219421
chr9133571055133571201E07219711
chr9133572504133572656E07221160
chr9133572883133572936E07221539
chr9133572955133573015E07221611
chr9133576356133577051E07225012
chr9133577122133577305E07225778
chr9133591956133592026E07240612
chr9133502146133502208E073-49136
chr9133502236133502286E073-49058
chr9133502292133502346E073-48998
chr9133502358133502451E073-48893
chr9133506080133506162E073-45182
chr9133570717133570761E07319373
chr9133570765133570979E07319421
chr9133571605133571655E07320261
chr9133571669133571787E07320325
chr9133571794133571903E07320450
chr9133572360133572430E07321016
chr9133572504133572656E07321160
chr9133577122133577305E07325778
chr9133502146133502208E074-49136
chr9133502236133502286E074-49058
chr9133502292133502346E074-48998
chr9133502358133502451E074-48893
chr9133570717133570761E07419373
chr9133570765133570979E07419421
chr9133576356133577051E07425012
chr9133577122133577305E07425778
chr9133577360133577415E07426016
chr9133503182133503283E081-48061
chr9133503333133503556E081-47788
chr9133513728133513831E081-37513
chr9133513876133514038E081-37306
chr9133514208133514305E081-37039
chr9133514324133514492E081-36852
chr9133514557133514802E081-36542
chr9133514809133515021E081-36323
chr9133515061133515115E081-36229
chr9133515227133515337E081-36007
chr9133515348133515398E081-35946
chr9133550899133551162E081-182
chr9133570717133570761E08119373
chr9133570765133570979E08119421
chr9133571055133571201E08119711
chr9133591956133592026E08140612
chr9133513728133513831E082-37513
chr9133513876133514038E082-37306
chr9133514208133514305E082-37039
chr9133514324133514492E082-36852
chr9133550899133551162E082-182
chr9133567012133567221E08215668
chr9133567249133567323E08215905
chr9133571055133571201E08219711
chr9133571605133571655E08220261
chr9133571669133571787E08220325
chr9133571794133571903E08220450
chr9133572360133572430E08221016
chr9133572504133572656E08221160










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9133556092133558268E0674748
chr9133565026133566114E06713682
chr9133567547133569924E06716203
chr9133587720133590706E06736376
chr9133556092133558268E0684748
chr9133565026133566114E06813682
chr9133567547133569924E06816203
chr9133587720133590706E06836376
chr9133590723133591571E06839379
chr9133556092133558268E0694748
chr9133565026133566114E06913682
chr9133567547133569924E06916203
chr9133587720133590706E06936376
chr9133590723133591571E06939379
chr9133535250133535536E070-15808
chr9133535649133535735E070-15609
chr9133556092133558268E0704748
chr9133567547133569924E07016203
chr9133587720133590706E07036376
chr9133590723133591571E07039379
chr9133556092133558268E0714748
chr9133565026133566114E07113682
chr9133567547133569924E07116203
chr9133587720133590706E07136376
chr9133590723133591571E07139379
chr9133556092133558268E0724748
chr9133565026133566114E07213682
chr9133567547133569924E07216203
chr9133587720133590706E07236376
chr9133590723133591571E07239379
chr9133556092133558268E0734748
chr9133565026133566114E07313682
chr9133567547133569924E07316203
chr9133587720133590706E07336376
chr9133590723133591571E07339379
chr9133556092133558268E0744748
chr9133565026133566114E07413682
chr9133567547133569924E07416203
chr9133587720133590706E07436376
chr9133587720133590706E08136376
chr9133590723133591571E08139379
chr9133535649133535735E082-15609
chr9133535759133535933E082-15411
chr9133556092133558268E0824748
chr9133567547133569924E08216203
chr9133587720133590706E08236376
chr9133590723133591571E08239379