rs10221410

Homo sapiens
C>T
EPB41L3 : Intron Variant
LOC100286986 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0085 (2573/29960,GnomAD)
T=0079 (2323/29118,TOPMED)
T=0058 (292/5008,1000G)
T=0104 (399/3854,ALSPAC)
T=0104 (387/3708,TWINSUK)
chr18:5605990 (GRCh38.p7) (18p11.31)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.5605990C>T
GRCh37.p13 chr 18NC_000018.9:g.5605989C>T

Gene: EPB41L3, erythrocyte membrane protein band 4.1 like 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EPB41L3 transcript variant 4NM_001281535.1:c.N/AIntron Variant
EPB41L3 transcript variant 2NM_001281533.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant 3NM_001281534.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant 1NM_012307.3:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X34XM_017025645.1:c.N/AIntron Variant
EPB41L3 transcript variant X36XM_017025647.1:c.N/AIntron Variant
EPB41L3 transcript variant X37XM_017025648.1:c.N/AIntron Variant
EPB41L3 transcript variant X38XM_017025649.1:c.N/AIntron Variant
EPB41L3 transcript variant X39XM_017025650.1:c.N/AIntron Variant
EPB41L3 transcript variant X40XM_017025651.1:c.N/AIntron Variant
EPB41L3 transcript variant X41XM_017025652.1:c.N/AIntron Variant
EPB41L3 transcript variant X42XM_017025653.1:c.N/AIntron Variant
EPB41L3 transcript variant X43XM_017025654.1:c.N/AIntron Variant
EPB41L3 transcript variant X44XM_017025655.1:c.N/AIntron Variant
EPB41L3 transcript variant X45XM_017025656.1:c.N/AIntron Variant
EPB41L3 transcript variant X46XM_017025657.1:c.N/AIntron Variant
EPB41L3 transcript variant X47XM_017025658.1:c.N/AIntron Variant
EPB41L3 transcript variant X48XM_017025659.1:c.N/AIntron Variant
EPB41L3 transcript variant X49XM_017025660.1:c.N/AIntron Variant
EPB41L3 transcript variant X4XM_011525623.2:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X1XM_011525626.2:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X12XM_011525628.2:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X3XM_011525632.2:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X8XM_011525634.2:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X20XM_011525637.2:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X2XM_017025618.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X5XM_017025619.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X6XM_017025620.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X7XM_017025621.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X9XM_017025622.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X10XM_017025623.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X11XM_017025624.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X13XM_017025625.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X14XM_017025626.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X15XM_017025627.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X16XM_017025628.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X17XM_017025629.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X18XM_017025630.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X19XM_017025631.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X21XM_017025632.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X22XM_017025633.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X23XM_017025634.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X24XM_017025635.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X25XM_017025636.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X26XM_017025637.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X27XM_017025638.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X28XM_017025639.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X29XM_017025640.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X30XM_017025641.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X31XM_017025642.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X32XM_017025643.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X33XM_017025644.1:c.N/AGenic Upstream Transcript Variant
EPB41L3 transcript variant X35XM_017025646.1:c.N/AGenic Upstream Transcript Variant

Gene: LOC100286986, uncharacterized LOC100286986(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100286986 transcriptXR_001753310.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.958T=0.042
1000GenomesAmericanSub694C=0.940T=0.060
1000GenomesEast AsianSub1008C=0.983T=0.017
1000GenomesEuropeSub1006C=0.880T=0.120
1000GenomesGlobalStudy-wide5008C=0.942T=0.058
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.896T=0.104
The Genome Aggregation DatabaseAfricanSub8728C=0.949T=0.051
The Genome Aggregation DatabaseAmericanSub836C=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1620C=0.975T=0.025
The Genome Aggregation DatabaseEuropeSub18474C=0.891T=0.108
The Genome Aggregation DatabaseGlobalStudy-wide29960C=0.914T=0.085
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.920T=0.079
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.896T=0.104
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
rs102214100.00052alcohol dependence20201924

eQTL of rs10221410 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 rs10221410 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 )
chr1855563325556932E068-49057
chr1855569945557034E068-48955
chr1855827855583816E068-22173
chr1855563325556932E071-49057
chr1855569945557034E071-48955
chr1855570635557279E071-48710
chr1855563325556932E072-49057
chr1855569945557034E072-48955
chr1855570635557279E072-48710
chr1855569945557034E073-48955
chr1855570635557279E073-48710
chr1856083995608468E0812410
chr1856078155608347E0821826
chr1856083995608468E0822410






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1856277185631318E06721729
chr1856277185631318E06821729
chr1856277185631318E06921729
chr1856277185631318E07021729
chr1856277185631318E07121729
chr1856277185631318E07221729
chr1856277185631318E07321729
chr1856277185631318E07421729
chr1856277185631318E08221729