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Detailed information for vg1219910582:

Variant ID: vg1219910582 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 19910582
Reference Allele: GAlternative Allele: A,C
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.95, A: 0.04, others allele: 0.00, population size: 107. )

Flanking Sequence (100 bp) in Reference Genome:


CAGTACTCCATATAAAAAATTTTGGTTAGATATGATACTTTTCAGTACAGTGAATCTGGACAGCTTTCATGTCTAGATTTATTGTAATAGGATATGTCAC[G/A,C]
TCCAACCAAAATTATTTATATTTAGGATGGAGGGAGGGAGTATTAAACAGGCGATTTGGTCGTCGGCAAATCTGACTTAATTATTATCATCCACAGCCAT

Reverse complement sequence

ATGGCTGTGGATGATAATAATTAAGTCAGATTTGCCGACGACCAAATCGCCTGTTTAATACTCCCTCCCTCCATCCTAAATATAAATAATTTTGGTTGGA[C/T,G]
GTGACATATCCTATTACAATAAATCTAGACATGAAAGCTGTCCAGATTCACTGTACTGAAAAGTATCATATCTAACCAAAATTTTTTATATGGAGTACTG

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 61.70% 38.20% 0.11% 0.00% C: 0.08%
All Indica  2759 94.10% 5.80% 0.04% 0.00% NA
All Japonica  1512 2.60% 97.40% 0.00% 0.00% NA
Aus  269 87.00% 10.00% 1.49% 0.00% C: 1.49%
Indica I  595 97.00% 3.00% 0.00% 0.00% NA
Indica II  465 95.30% 4.70% 0.00% 0.00% NA
Indica III  913 93.30% 6.60% 0.11% 0.00% NA
Indica Intermediate  786 92.20% 7.80% 0.00% 0.00% NA
Temperate Japonica  767 1.70% 98.30% 0.00% 0.00% NA
Tropical Japonica  504 3.80% 96.20% 0.00% 0.00% NA
Japonica Intermediate  241 2.90% 97.10% 0.00% 0.00% NA
VI/Aromatic  96 14.60% 85.40% 0.00% 0.00% NA
Intermediate  90 33.30% 66.70% 0.00% 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
vg1219910582 G -> C LOC_Os12g32950.1 upstream_gene_variant ; 4250.0bp to feature; MODIFIER silent_mutation Average:87.508; most accessible tissue: Minghui63 root, score: 97.041 N N N N
vg1219910582 G -> C LOC_Os12g32960.1 downstream_gene_variant ; 2038.0bp to feature; MODIFIER silent_mutation Average:87.508; most accessible tissue: Minghui63 root, score: 97.041 N N N N
vg1219910582 G -> C LOC_Os12g32970.1 downstream_gene_variant ; 1.0bp to feature; MODIFIER silent_mutation Average:87.508; most accessible tissue: Minghui63 root, score: 97.041 N N N N
vg1219910582 G -> C LOC_Os12g32980.1 downstream_gene_variant ; 3725.0bp to feature; MODIFIER silent_mutation Average:87.508; most accessible tissue: Minghui63 root, score: 97.041 N N N N
vg1219910582 G -> C LOC_Os12g32960-LOC_Os12g32970 intergenic_region ; MODIFIER silent_mutation Average:87.508; most accessible tissue: Minghui63 root, score: 97.041 N N N N
vg1219910582 G -> A LOC_Os12g32950.1 upstream_gene_variant ; 4250.0bp to feature; MODIFIER silent_mutation Average:87.508; most accessible tissue: Minghui63 root, score: 97.041 N N N N
vg1219910582 G -> A LOC_Os12g32960.1 downstream_gene_variant ; 2038.0bp to feature; MODIFIER silent_mutation Average:87.508; most accessible tissue: Minghui63 root, score: 97.041 N N N N
vg1219910582 G -> A LOC_Os12g32970.1 downstream_gene_variant ; 1.0bp to feature; MODIFIER silent_mutation Average:87.508; most accessible tissue: Minghui63 root, score: 97.041 N N N N
vg1219910582 G -> A LOC_Os12g32980.1 downstream_gene_variant ; 3725.0bp to feature; MODIFIER silent_mutation Average:87.508; most accessible tissue: Minghui63 root, score: 97.041 N N N N
vg1219910582 G -> A LOC_Os12g32960-LOC_Os12g32970 intergenic_region ; MODIFIER silent_mutation Average:87.508; most accessible tissue: Minghui63 root, score: 97.041 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)
vg1219910582 G A 0.02 0.01 0.02 -0.02 -0.02 -0.03
vg1219910582 G C -0.01 -0.12 -0.1 -0.05 -0.07 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1219910582 NA 8.27E-11 mr1084 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
vg1219910582 NA 8.96E-21 mr1254 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
vg1219910582 NA 5.41E-08 mr1334 Ind_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
vg1219910582 NA 1.36E-15 mr1376 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
vg1219910582 NA 5.21E-12 mr1386 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
vg1219910582 NA 1.36E-15 mr1431 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
vg1219910582 NA 1.99E-10 mr1630 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
vg1219910582 NA 3.57E-06 mr1646 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
vg1219910582 NA 6.17E-08 mr1084_2 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
vg1219910582 NA 1.16E-16 mr1146_2 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
vg1219910582 NA 2.15E-07 mr1205_2 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
vg1219910582 5.47E-07 NA mr1334_2 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
vg1219910582 4.17E-10 6.48E-13 mr1334_2 Ind_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