rs4705665

Homo sapiens
A>G
KCNN2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0160 (4796/29958,GnomAD)
G=0173 (5045/29118,TOPMED)
G=0174 (870/5008,1000G)
G=0176 (679/3854,ALSPAC)
G=0190 (706/3708,TWINSUK)
chr5:114407956 (GRCh38.p7) (5q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.114407956A>G
GRCh37.p13 chr 5NC_000005.9:g.113743653A>G

Gene: KCNN2, potassium calcium-activated channel subfamily N member 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KCNN2 transcript variant 3NM_001278204.1:c.N/AIntron Variant
KCNN2 transcript variant 1NM_021614.3:c.N/AIntron Variant
KCNN2 transcript variant 2NM_170775.2:c.N/AGenic Upstream Transcript Variant
KCNN2 transcript variant 4NR_103458.1:n.N/AGenic Upstream Transcript Variant
KCNN2 transcript variant X1XM_011543387.1:c.N/AIntron Variant
KCNN2 transcript variant X2XM_011543389.1:c.N/AIntron Variant
KCNN2 transcript variant X3XM_017009457.1:c.N/A5 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.843G=0.157
1000GenomesAmericanSub694A=0.770G=0.230
1000GenomesEast AsianSub1008A=0.905G=0.095
1000GenomesEuropeSub1006A=0.827G=0.173
1000GenomesGlobalStudy-wide5008A=0.826G=0.174
1000GenomesSouth AsianSub978A=0.760G=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.824G=0.176
The Genome Aggregation DatabaseAfricanSub8712A=0.848G=0.152
The Genome Aggregation DatabaseAmericanSub838A=0.760G=0.240
The Genome Aggregation DatabaseEast AsianSub1622A=0.909G=0.091
The Genome Aggregation DatabaseEuropeSub18484A=0.834G=0.165
The Genome Aggregation DatabaseGlobalStudy-wide29958A=0.839G=0.160
The Genome Aggregation DatabaseOtherSub302A=0.820G=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.826G=0.173
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.810G=0.190
PMID Title Author Journal
22072270Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.Wang KSJ Neural Transm (Vienna)

P-Value

SNP ID p-value Traits Study
rs47056652.55E-05alcohol withdrawal symptoms22072270

eQTL of rs4705665 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 rs4705665 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 )
chr5113707058113707154E068-36499
chr5113707202113707281E068-36372
chr5113731473113731596E068-12057
chr5113731747113731836E068-11817
chr5113751582113751711E0697929
chr5113785371113785463E06941718
chr5113785528113786197E06941875
chr5113785176113785314E07041523
chr5113785371113785463E07041718
chr5113785528113786197E07041875
chr5113720538113720588E071-23065
chr5113739160113739230E071-4423
chr5113753362113753443E0719709
chr5113754006113754141E07110353
chr5113754463113754654E07110810
chr5113785528113786197E07141875
chr5113786277113786536E07142624
chr5113785176113785314E07341523
chr5113785371113785463E07341718
chr5113785528113786197E07341875
chr5113773431113773568E08129778
chr5113773722113774133E08130069
chr5113774327113774420E08130674
chr5113775821113775886E08132168
chr5113785371113785463E08141718
chr5113785528113786197E08141875
chr5113786277113786536E08142624
chr5113773431113773568E08229778
chr5113773722113774133E08230069
chr5113774327113774420E08230674
chr5113785007113785057E08241354
chr5113785176113785314E08241523
chr5113785371113785463E08241718
chr5113785528113786197E08241875







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5113695998113698598E067-45055
chr5113698614113699876E067-43777
chr5113695998113698598E068-45055
chr5113698614113699876E068-43777
chr5113695998113698598E069-45055
chr5113698614113699876E069-43777
chr5113695998113698598E070-45055
chr5113695998113698598E071-45055
chr5113695998113698598E072-45055
chr5113698614113699876E072-43777
chr5113695998113698598E073-45055
chr5113698614113699876E073-43777
chr5113695998113698598E074-45055
chr5113698614113699876E074-43777
chr5113695609113695659E082-47994
chr5113695693113695797E082-47856
chr5113695866113695963E082-47690
chr5113695998113698598E082-45055