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Detailed information for vg1117628825:

Variant ID: vg1117628825 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 17628825
Reference Allele: AAlternative Allele: C
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.98, A: 0.02, others allele: 0.00, population size: 45. )

Flanking Sequence (100 bp) in Reference Genome:


TTTTTAAGCAACTTTTGTATATAAACTTTTTGTAAAAAACACACCGTTTAGCAGTTTGAAAAGCGTGCGCGCGGAAAATAAGATGGGGGAGTTGGGAACT[A/C]
CAGGAAACGAACAGAGCCTAAGTATGGTTGTTCCTAAGAAATCTAACGGCTACTCGTACAATTGGCATGTGGGGATTAATTAATACGAAAACTCATGATT

Reverse complement sequence

AATCATGAGTTTTCGTATTAATTAATCCCCACATGCCAATTGTACGAGTAGCCGTTAGATTTCTTAGGAACAACCATACTTAGGCTCTGTTCGTTTCCTG[T/G]
AGTTCCCAACTCCCCCATCTTATTTTCCGCGCGCACGCTTTTCAAACTGCTAAACGGTGTGTTTTTTACAAAAAGTTTATATACAAAAGTTGCTTAAAAA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 40.10% 4.80% 11.53% 43.61% NA
All Indica  2759 25.70% 6.50% 14.14% 53.68% NA
All Japonica  1512 71.20% 0.70% 2.91% 25.20% NA
Aus  269 10.80% 0.00% 32.71% 56.51% NA
Indica I  595 37.50% 4.00% 12.27% 46.22% NA
Indica II  465 7.30% 19.60% 15.70% 57.42% NA
Indica III  913 28.80% 2.10% 12.92% 56.19% NA
Indica Intermediate  786 24.00% 5.70% 16.03% 54.20% NA
Temperate Japonica  767 67.80% 0.90% 1.69% 29.60% NA
Tropical Japonica  504 67.30% 0.40% 5.56% 26.79% NA
Japonica Intermediate  241 90.50% 0.40% 1.24% 7.88% NA
VI/Aromatic  96 47.90% 25.00% 18.75% 8.33% NA
Intermediate  90 36.70% 14.40% 5.56% 43.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1117628825 A -> DEL N N silent_mutation Average:56.386; most accessible tissue: Minghui63 root, score: 91.296 N N N N
vg1117628825 A -> C LOC_Os11g30360.1 downstream_gene_variant ; 2476.0bp to feature; MODIFIER silent_mutation Average:56.386; most accessible tissue: Minghui63 root, score: 91.296 N N N N
vg1117628825 A -> C LOC_Os11g30370.1 downstream_gene_variant ; 2784.0bp to feature; MODIFIER silent_mutation Average:56.386; most accessible tissue: Minghui63 root, score: 91.296 N N N N
vg1117628825 A -> C LOC_Os11g30360-LOC_Os11g30370 intergenic_region ; MODIFIER silent_mutation Average:56.386; most accessible tissue: Minghui63 root, score: 91.296 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)
vg1117628825 A C -0.02 -0.02 -0.02 0.0 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1117628825 NA 9.71E-06 mr1180 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
vg1117628825 6.15E-06 5.84E-08 mr1218 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
vg1117628825 NA 5.46E-07 mr1343 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
vg1117628825 NA 1.51E-06 mr1422 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
vg1117628825 6.02E-07 3.17E-08 mr1583 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
vg1117628825 NA 2.48E-10 mr1829 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
vg1117628825 1.53E-06 7.64E-09 mr1835 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
vg1117628825 NA 1.56E-07 mr1828_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
vg1117628825 NA 4.37E-08 mr1850_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