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Detailed information for vg1122219057:

Variant ID: vg1122219057 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 22219057
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 0.75, A: 0.24, others allele: 0.00, population size: 103. )

Flanking Sequence (100 bp) in Reference Genome:


AAAAAACCATGTCTGTATTCCCTACCAATCTGAAATATAAAAGATCAAATTTGTGCGCAATCAACTACAAGTTGCTCCATTTTTTTTCTCATATTCTCTG[A/G]
TGATATACACACATCATTTTCCTGTGCGCAATTCTTGAAATTCAGAGTTTTGATATTTCTGCATATACTCCTTGAAAGTTTTCTTATGCGCAATTCTTGA

Reverse complement sequence

TCAAGAATTGCGCATAAGAAAACTTTCAAGGAGTATATGCAGAAATATCAAAACTCTGAATTTCAAGAATTGCGCACAGGAAAATGATGTGTGTATATCA[T/C]
CAGAGAATATGAGAAAAAAAATGGAGCAACTTGTAGTTGATTGCGCACAAATTTGATCTTTTATATTTCAGATTGGTAGGGAATACAGACATGGTTTTTT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 60.30% 29.30% 5.69% 4.63% NA
All Indica  2759 68.00% 17.20% 8.30% 6.52% NA
All Japonica  1512 39.90% 58.10% 0.79% 1.12% NA
Aus  269 85.10% 0.70% 8.18% 5.95% NA
Indica I  595 47.90% 35.30% 13.78% 3.03% NA
Indica II  465 74.60% 2.20% 14.19% 9.03% NA
Indica III  913 74.70% 16.10% 1.53% 7.67% NA
Indica Intermediate  786 71.50% 13.60% 8.52% 6.36% NA
Temperate Japonica  767 31.00% 66.50% 1.17% 1.30% NA
Tropical Japonica  504 52.20% 46.40% 0.20% 1.19% NA
Japonica Intermediate  241 42.70% 56.00% 0.83% 0.41% NA
VI/Aromatic  96 89.60% 6.20% 0.00% 4.17% NA
Intermediate  90 63.30% 27.80% 6.67% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1122219057 A -> DEL N N silent_mutation Average:71.448; most accessible tissue: Zhenshan97 flower, score: 88.928 N N N N
vg1122219057 A -> G LOC_Os11g37640.1 3_prime_UTR_variant ; 209.0bp to feature; MODIFIER silent_mutation Average:71.448; most accessible tissue: Zhenshan97 flower, score: 88.928 N N N N
vg1122219057 A -> G LOC_Os11g37660.1 downstream_gene_variant ; 4594.0bp to feature; MODIFIER silent_mutation Average:71.448; most accessible tissue: Zhenshan97 flower, score: 88.928 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)
vg1122219057 A G 0.01 0.01 0.01 0.0 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1122219057 2.83E-06 NA mr1081 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
vg1122219057 NA 2.31E-08 mr1252 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
vg1122219057 NA 6.02E-06 mr1502 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
vg1122219057 NA 6.21E-06 mr1965 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