Search for Variation information by Variation ID:

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

Detailed information for vg1224722880:

Variant ID: vg1224722880 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 24722880
Reference Allele: AAlternative Allele: G
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 0.69, G: 0.32, others allele: 0.00, population size: 204. )

Flanking Sequence (100 bp) in Reference Genome:


CGCGAGAAAATGGCGAGCGCGGCGGTCGGACTCATCGTCTTGGAACGACACCCACAAGAAGATGGCGAGTCTGCATGTAGTTTTCCTATTTATGTTGATA[A/G]
CAAACCAGAAAAGTCGCAGCAGCAGTACGCGGCACCAAAATCTCGTCTTCCTCCGTGTACTGATTTGATCCAATCTTCTGAGTGTTTGTTGGCAGCTAGA

Reverse complement sequence

TCTAGCTGCCAACAAACACTCAGAAGATTGGATCAAATCAGTACACGGAGGAAGACGAGATTTTGGTGCCGCGTACTGCTGCTGCGACTTTTCTGGTTTG[T/C]
TATCAACATAAATAGGAAAACTACATGCAGACTCGCCATCTTCTTGTGGGTGTCGTTCCAAGACGATGAGTCCGACCGCCGCGCTCGCCATTTTCTCGCG

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 71.80% 28.20% 0.04% 0.00% NA
All Indica  2759 98.20% 1.80% 0.00% 0.00% NA
All Japonica  1512 22.80% 77.20% 0.00% 0.00% NA
Aus  269 98.50% 1.50% 0.00% 0.00% NA
Indica I  595 99.50% 0.50% 0.00% 0.00% NA
Indica II  465 99.60% 0.40% 0.00% 0.00% NA
Indica III  913 97.70% 2.30% 0.00% 0.00% NA
Indica Intermediate  786 96.90% 3.10% 0.00% 0.00% NA
Temperate Japonica  767 3.70% 96.30% 0.00% 0.00% NA
Tropical Japonica  504 57.50% 42.50% 0.00% 0.00% NA
Japonica Intermediate  241 11.20% 88.80% 0.00% 0.00% NA
VI/Aromatic  96 12.50% 87.50% 0.00% 0.00% NA
Intermediate  90 66.70% 31.10% 2.22% 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
vg1224722880 A -> G LOC_Os12g39980.1 upstream_gene_variant ; 3578.0bp to feature; MODIFIER silent_mutation Average:64.335; most accessible tissue: Zhenshan97 panicle, score: 92.904 N N N N
vg1224722880 A -> G LOC_Os12g39990.1 downstream_gene_variant ; 910.0bp to feature; MODIFIER silent_mutation Average:64.335; most accessible tissue: Zhenshan97 panicle, score: 92.904 N N N N
vg1224722880 A -> G LOC_Os12g40000.1 downstream_gene_variant ; 4866.0bp to feature; MODIFIER silent_mutation Average:64.335; most accessible tissue: Zhenshan97 panicle, score: 92.904 N N N N
vg1224722880 A -> G LOC_Os12g39980-LOC_Os12g39990 intergenic_region ; MODIFIER silent_mutation Average:64.335; most accessible tissue: Zhenshan97 panicle, score: 92.904 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)
vg1224722880 A G 0.03 0.04 0.05 0.0 0.04 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1224722880 NA 2.89E-13 Grain_width Jap_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg1224722880 NA 9.05E-06 mr1124 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
vg1224722880 1.56E-07 2.11E-88 mr1334 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
vg1224722880 NA 3.19E-17 mr1334 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
vg1224722880 NA 5.00E-13 mr1217_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
vg1224722880 NA 4.91E-06 mr1218_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
vg1224722880 NA 9.30E-24 mr1304_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
vg1224722880 1.48E-10 9.93E-101 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
vg1224722880 3.76E-07 2.42E-23 mr1334_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
vg1224722880 NA 8.68E-24 mr1386_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
vg1224722880 NA 7.01E-07 mr1422_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
vg1224722880 NA 1.17E-06 mr1807_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
vg1224722880 NA 5.94E-11 mr1830_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
vg1224722880 2.85E-06 4.12E-54 mr1991_2 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
vg1224722880 NA 5.91E-11 mr1991_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