rs1400369

Homo sapiens
A>C
NELL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0283 (8490/29902,GnomAD)
C=0282 (8210/29118,TOPMED)
C=0313 (1569/5008,1000G)
C=0226 (872/3854,ALSPAC)
C=0233 (865/3708,TWINSUK)
chr11:20994749 (GRCh38.p7) (11p15.1)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.20994749A>C
GRCh37.p13 chr 11NC_000011.9:g.21016295A>C

Gene: NELL1, neural EGFL like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NELL1 transcript variant 3NM_001288713.1:c.N/AIntron Variant
NELL1 transcript variant 4NM_001288714.1:c.N/AIntron Variant
NELL1 transcript variant 1NM_006157.4:c.N/AIntron Variant
NELL1 transcript variant 2NM_201551.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.630C=0.370
1000GenomesAmericanSub694A=0.730C=0.270
1000GenomesEast AsianSub1008A=0.571C=0.429
1000GenomesEuropeSub1006A=0.770C=0.230
1000GenomesGlobalStudy-wide5008A=0.687C=0.313
1000GenomesSouth AsianSub978A=0.770C=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.774C=0.226
The Genome Aggregation DatabaseAfricanSub8698A=0.646C=0.354
The Genome Aggregation DatabaseAmericanSub836A=0.720C=0.280
The Genome Aggregation DatabaseEast AsianSub1614A=0.590C=0.410
The Genome Aggregation DatabaseEuropeSub18452A=0.760C=0.239
The Genome Aggregation DatabaseGlobalStudy-wide29902A=0.716C=0.283
The Genome Aggregation DatabaseOtherSub302A=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.718C=0.282
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.767C=0.233
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
rs14003690.000647alcohol dependence20201924

eQTL of rs1400369 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 rs1400369 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 )
chr112104219021042231E08125895
chr112104233121042405E08126036
chr112104254421042870E08126249