Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923).

Detailed information for vg1224247892:

Variant ID: vg1224247892 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 24247892
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 1.00, others allele: 0.00, population size: 259. )

Flanking Sequence (100 bp) in Reference Genome:


TTTTAGCATAACTCCTGTTTCACTCCCCTGCTAATATTTGAAGAGATTATGGTGTCTACTGGTGCACACTATTGATGTTTTCCAGAGAGTTGTAGCTACT[A/G]
TTATTTTTTATAGACTAGTAAAAGGAATTGGTGGTGGTGATGATTTGCTTTACACCCCACTACTTCATCAGATCTTTAGTGAATGGATCTATGTAGACAT

Reverse complement sequence

ATGTCTACATAGATCCATTCACTAAAGATCTGATGAAGTAGTGGGGTGTAAAGCAAATCATCACCACCACCAATTCCTTTTACTAGTCTATAAAAAATAA[T/C]
AGTAGCTACAACTCTCTGGAAAACATCAATAGTGTGCACCAGTAGACACCATAATCTCTTCAAATATTAGCAGGGGAGTGAAACAGGAGTTATGCTAAAA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 63.10% 34.60% 2.33% 0.00% NA
All Indica  2759 57.60% 40.80% 1.59% 0.00% NA
All Japonica  1512 69.40% 26.70% 3.90% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 68.40% 27.20% 4.37% 0.00% NA
Indica II  465 55.90% 42.80% 1.29% 0.00% NA
Indica III  913 43.20% 56.60% 0.22% 0.00% NA
Indica Intermediate  786 67.20% 31.60% 1.27% 0.00% NA
Temperate Japonica  767 90.20% 5.70% 4.04% 0.00% NA
Tropical Japonica  504 39.50% 57.50% 2.98% 0.00% NA
Japonica Intermediate  241 65.60% 29.00% 5.39% 0.00% NA
VI/Aromatic  96 20.80% 77.10% 2.08% 0.00% NA
Intermediate  90 63.30% 31.10% 5.56% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1224247892 A -> G LOC_Os12g39410.1 upstream_gene_variant ; 3011.0bp to feature; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.1 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.10 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.11 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.4 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.5 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.9 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.7 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.3 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.6 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.2 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N
vg1224247892 A -> G LOC_Os12g39420.8 intron_variant ; MODIFIER silent_mutation Average:80.307; most accessible tissue: Callus, score: 92.559 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg1224247892 A G -0.1 -0.03 -0.04 -0.01 -0.03 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1224247892 NA 1.07E-06 mr1068_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1224247892 NA 3.42E-06 mr1077_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1224247892 NA 3.50E-06 mr1110_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1224247892 4.36E-06 1.44E-08 mr1112_2 Jap_All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1224247892 NA 4.84E-07 mr1211_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1224247892 NA 4.89E-06 mr1252_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1224247892 4.42E-07 1.50E-08 mr1563_2 Jap_All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1224247892 NA 8.72E-06 mr1596_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg1224247892 NA 6.37E-06 mr1865_2 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251