SNP Detail Info-rs6742515

Organism: Homo sapiens

Alleles: T>C / T>G

Gene : Feature

ANAPC1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0421 (12507/29678,GnomAD)
T==0451 (13134/29116,TOPMED)
C=0419 (5454/13000,GO-ESP)
T==0437 (2188/5008,1000G)
T==0350 (1348/3854,ALSPAC)
T==0349 (1294/3708,TWINSUK)

Position: chr2:111867998 (GRCh38.p7) (2q13)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.111867998T>C
GRCh38.p7 chr 2	NC_000002.12:g.111867998T>G
GRCh37.p13 chr 2	NC_000002.11:g.112625575T>C
GRCh37.p13 chr 2	NC_000002.11:g.112625575T>G

Gene: ANAPC1, anaphase promoting complex subunit 1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANAPC1 transcript	NM_022662.3:c.	N/A	Intron Variant
ANAPC1 transcript variant X1	XM_011511633.2:c.	N/A	Intron Variant
ANAPC1 transcript variant X4	XM_011511634.2:c.	N/A	Intron Variant
ANAPC1 transcript variant X9	XM_011511636.2:c.	N/A	Intron Variant
ANAPC1 transcript variant X10	XM_011511637.2:c.	N/A	Intron Variant
ANAPC1 transcript variant X2	XM_017004710.1:c.	N/A	Intron Variant
ANAPC1 transcript variant X3	XM_017004711.1:c.	N/A	Intron Variant
ANAPC1 transcript variant X5	XM_017004712.1:c.	N/A	Intron Variant
ANAPC1 transcript variant X6	XM_017004713.1:c.	N/A	Intron Variant
ANAPC1 transcript variant X7	XM_017004714.1:c.	N/A	Intron Variant
ANAPC1 transcript variant X8	XM_017004715.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.638	C=0.362
1000Genomes	American	Sub	694	T=0.340	C=0.660
1000Genomes	East Asian	Sub	1008	T=0.441	C=0.559
1000Genomes	Europe	Sub	1006	T=0.338	C=0.662
1000Genomes	Global	Study-wide	5008	T=0.437	C=0.563
1000Genomes	South Asian	Sub	978	T=0.330	C=0.670
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.350	C=0.650
The Genome Aggregation Database	African	Sub	8676	T=0.579	G=0.000
The Genome Aggregation Database	American	Sub	832	T=0.360	G=0.00,
The Genome Aggregation Database	East Asian	Sub	1616	T=0.414	G=0.000
The Genome Aggregation Database	Europe	Sub	18252	T=0.349	G=0.000
The Genome Aggregation Database	Global	Study-wide	29678	T=0.421	G=0.000
The Genome Aggregation Database	Other	Sub	302	T=0.430	G=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29116	T=0.451	C=0.548
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.349	C=0.651

rs6742515

Genomic Coordinates

Gene: ANAPC1, anaphase promoting complex subunit 1(minus strand)

Population Frequency

P-Value

eQTL of rs6742515 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs6742515 in Fetal Brain

Genomic View

Chromatin Interaction