rs4849770

Homo sapiens
G>A / G>C
LOC107985941 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0335 (10050/29916,GnomAD)
A=0359 (10471/29116,TOPMED)
A=0322 (1614/5008,1000G)
A=0330 (1271/3854,ALSPAC)
A=0345 (1278/3708,TWINSUK)
chr2:119199450 (GRCh38.p7) (2q14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
65 Enhancers around
45 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.119199450G>A
GRCh38.p7 chr 2NC_000002.12:g.119199450G>C
GRCh37.p13 chr 2NC_000002.11:g.119957026G>A
GRCh37.p13 chr 2NC_000002.11:g.119957026G>C

Gene: LOC107985941, uncharacterized LOC107985941(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107985941 transcriptXR_001739665.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.609A=0.391
1000GenomesAmericanSub694G=0.630A=0.370
1000GenomesEast AsianSub1008G=0.748A=0.252
1000GenomesEuropeSub1006G=0.687A=0.313
1000GenomesGlobalStudy-wide5008G=0.678A=0.322
1000GenomesSouth AsianSub978G=0.720A=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.670A=0.330
The Genome Aggregation DatabaseAfricanSub8706G=0.644C=0.000
The Genome Aggregation DatabaseAmericanSub836G=0.680C=0.00,
The Genome Aggregation DatabaseEast AsianSub1618G=0.703C=0.000
The Genome Aggregation DatabaseEuropeSub18454G=0.668C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29916G=0.664C=0.000
The Genome Aggregation DatabaseOtherSub302G=0.710C=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.640A=0.359
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.655A=0.345
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs48497700.000188alcohol dependence21314694

eQTL of rs4849770 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 rs4849770 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 )
chr27241849672418623E0673735
chr27241871372418881E0673952
chr27243050772430591E06715746
chr27243121172431337E06716450
chr27243136572431428E06716604
chr27243150372433034E06716742
chr27243303672433127E06718275
chr27246365772463893E06748896
chr27246393772464022E06749176
chr27240090472401378E068-13383
chr27242585772426337E06811096
chr27243121172431337E06816450
chr27243136572431428E06816604
chr27243150372433034E06816742
chr27243303672433127E06818275
chr27243325272433302E06818491
chr27245000272450601E06835241
chr27241849672418623E0693735
chr27241871372418881E0693952
chr27242585772426337E06911096
chr27243136572431428E06916604
chr27243150372433034E06916742
chr27243303672433127E06918275
chr27245000272450601E06935241
chr27246365772463893E06948896
chr27246393772464022E06949176
chr27238544572385528E070-29233
chr27241248272412622E071-2139
chr27243136572431428E07116604
chr27243150372433034E07116742
chr27243303672433127E07118275
chr27243325272433302E07118491
chr27243359072433695E07118829
chr27243374272433837E07118981
chr27244293272443225E07128171
chr27245000272450601E07135241
chr27246326572463344E07148504
chr27246365772463893E07148896
chr27246393772464022E07149176
chr27241834372418464E0723582
chr27241849672418623E0723735
chr27241871372418881E0723952
chr27243136572431428E07216604
chr27243150372433034E07216742
chr27243303672433127E07218275
chr27245000272450601E07235241
chr27240090472401378E073-13383
chr27243121172431337E07316450
chr27243136572431428E07316604
chr27243150372433034E07316742
chr27243303672433127E07318275
chr27236538272365819E074-48942
chr27236609372366160E074-48601
chr27240090472401378E074-13383
chr27241248272412622E074-2139
chr27241871372418881E0743952
chr27243050772430591E07415746
chr27243121172431337E07416450
chr27243136572431428E07416604
chr27243150372433034E07416742
chr27243303672433127E07418275
chr27243325272433302E07418491
chr27244195472442180E07427193
chr27245000272450601E07435241
chr27236877672368897E082-45864









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr27236987872371358E067-43403
chr27237142472373035E067-41726
chr27237303672373229E067-41532
chr27237350572375038E067-39723
chr27237510472375264E067-39497
chr27237532172375448E067-39313
chr27237553172377989E067-36772
chr27236987872371358E068-43403
chr27237142472373035E068-41726
chr27237303672373229E068-41532
chr27237350572375038E068-39723
chr27237510472375264E068-39497
chr27237532172375448E068-39313
chr27237553172377989E068-36772
chr27236987872371358E069-43403
chr27237142472373035E069-41726
chr27237303672373229E069-41532
chr27237553172377989E069-36772
chr27237510472375264E070-39497
chr27237532172375448E070-39313
chr27237553172377989E071-36772
chr27236987872371358E072-43403
chr27237142472373035E072-41726
chr27237510472375264E072-39497
chr27237532172375448E072-39313
chr27237553172377989E072-36772
chr27236987872371358E073-43403
chr27237142472373035E073-41726
chr27237350572375038E073-39723
chr27237510472375264E073-39497
chr27237532172375448E073-39313
chr27237553172377989E073-36772
chr27236987872371358E074-43403
chr27237142472373035E074-41726
chr27237303672373229E074-41532
chr27237350572375038E074-39723
chr27237510472375264E074-39497
chr27237532172375448E074-39313
chr27237553172377989E074-36772
chr27237142472373035E082-41726
chr27237303672373229E082-41532
chr27237350572375038E082-39723
chr27237510472375264E082-39497
chr27237532172375448E082-39313
chr27237553172377989E082-36772