rs2835872

Homo sapiens
G>A
KCNJ6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0266 (7971/29898,GnomAD)
A=0252 (7356/29118,TOPMED)
A=0215 (1076/5008,1000G)
A=0331 (1275/3854,ALSPAC)
A=0331 (1226/3708,TWINSUK)
chr21:37654970 (GRCh38.p7) (21q22.13)
AD
GWASCatalog
1   publication(s)
See rs on genome
64 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.37654970G>A
GRCh37.p13 chr 21NC_000021.8:g.39027272G>A
KCNJ6 RefSeqGeneNG_029892.2:g.266424C>T

Gene: KCNJ6, potassium voltage-gated channel subfamily J member 6(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNJ6 transcriptNM_002240.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.889A=0.111
1000GenomesAmericanSub694G=0.700A=0.300
1000GenomesEast AsianSub1008G=0.870A=0.130
1000GenomesEuropeSub1006G=0.669A=0.331
1000GenomesGlobalStudy-wide5008G=0.785A=0.215
1000GenomesSouth AsianSub978G=0.740A=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.669A=0.331
The Genome Aggregation DatabaseAfricanSub8706G=0.860A=0.140
The Genome Aggregation DatabaseAmericanSub832G=0.680A=0.320
The Genome Aggregation DatabaseEast AsianSub1618G=0.870A=0.130
The Genome Aggregation DatabaseEuropeSub18440G=0.664A=0.335
The Genome Aggregation DatabaseGlobalStudy-wide29898G=0.733A=0.266
The Genome Aggregation DatabaseOtherSub302G=0.730A=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.747A=0.252
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.669A=0.331
PMID Title Author Journal
22554406Family-based genome-wide association study of frontal theta oscillations identifies potassium channel gene KCNJ6.Kang SJGenes Brain Behav

P-Value

SNP ID p-value Traits Study
rs28358725E-10alcohol dependence22554406

eQTL of rs2835872 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr21:39027272KCNJ6ENSG00000157542.8G>A2.8819e-5-261477Cerebellum
Chr21:39027272KCNJ6ENSG00000157542.8G>A3.8293e-4-261477Frontal_Cortex_BA9

meQTL of rs2835872 in Fetal Brain

Probe ID Position Gene beta p-value
cg20424643chr21:39039972KCNJ6-0.0161280511726965.0101e-10

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 )
chr213899504638995096E067-32176
chr213899520138995288E067-31984
chr213899529238995372E067-31900
chr213899544438995535E067-31737
chr213899556438995770E067-31502
chr213903041539030465E0673143
chr213903056539030723E0673293
chr213903075139030901E0673479
chr213903090439031102E0673632
chr213899520138995288E068-31984
chr213899529238995372E068-31900
chr213899544438995535E068-31737
chr213899556438995770E068-31502
chr213903090439031102E0683632
chr213903114239031788E0683870
chr213899520138995288E069-31984
chr213899529238995372E069-31900
chr213899544438995535E069-31737
chr213899556438995770E069-31502
chr213903787539038167E06910603
chr213904937539049441E06922103
chr213904945739049507E06922185
chr213904953739049610E06922265
chr213905641639056466E06929144
chr213905651939056579E06929247
chr213899544438995535E070-31737
chr213899556438995770E070-31502
chr213905509039056055E07027818
chr213905610139056210E07028829
chr213899504638995096E071-32176
chr213899520138995288E071-31984
chr213899529238995372E071-31900
chr213899544438995535E071-31737
chr213899556438995770E071-31502
chr213903090439031102E0723632
chr213903114239031788E0723870
chr213904859439048719E07221322
chr213904881839048901E07221546
chr213904900739049101E07221735
chr213905626839056326E07228996
chr213899504638995096E073-32176
chr213899520138995288E073-31984
chr213899529238995372E073-31900
chr213899544438995535E073-31737
chr213899556438995770E073-31502
chr213903090439031102E0733632
chr213903114239031788E0733870
chr213903199039032261E0734718
chr213903787539038167E07310603
chr213904945739049507E07322185
chr213904682039046940E08119548
chr213904699539047194E08119723
chr213905509039056055E08127818
chr213905610139056210E08128829
chr213905626839056326E08128996
chr213905641639056466E08129144
chr213905651939056579E08129247
chr213905677239056847E08129500
chr213905908139059927E08131809
chr213905509039056055E08227818
chr213905610139056210E08228829
chr213905626839056326E08228996
chr213905641639056466E08229144
chr213905651939056579E08229247