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Detailed information for vg1124116182:

Variant ID: vg1124116182 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 24116182
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.96, T: 0.05, others allele: 0.00, population size: 227. )

Flanking Sequence (100 bp) in Reference Genome:


ACAGCTGGGGATTTAGTCTAGTGGTAAGATATTCGCTTAGGGAGCGAAAGGTCCCGAGTTCAATTCTCGGAATCCCCAATCTGAAATCCCTTTTGCAATG[C/T]
ATGTCAAAGTTTTTTCTTTTCCAGAGAGAGAAATGCATGTGAAGGCTATCTATATGTTTGTATGATTTTCAGTGGTCTGGACTCTGGAGAGATGAGGTTT

Reverse complement sequence

AAACCTCATCTCTCCAGAGTCCAGACCACTGAAAATCATACAAACATATAGATAGCCTTCACATGCATTTCTCTCTCTGGAAAAGAAAAAACTTTGACAT[G/A]
CATTGCAAAAGGGATTTCAGATTGGGGATTCCGAGAATTGAACTCGGGACCTTTCGCTCCCTAAGCGAATATCTTACCACTAGACTAAATCCCCAGCTGT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 46.20% 17.40% 2.69% 33.71% NA
All Indica  2759 37.50% 10.20% 3.81% 48.42% NA
All Japonica  1512 53.70% 30.20% 1.32% 14.75% NA
Aus  269 98.10% 0.40% 0.37% 1.12% NA
Indica I  595 23.20% 0.80% 6.55% 69.41% NA
Indica II  465 29.50% 3.00% 3.87% 63.66% NA
Indica III  913 46.10% 21.40% 1.42% 31.11% NA
Indica Intermediate  786 43.30% 8.70% 4.45% 43.64% NA
Temperate Japonica  767 74.80% 14.90% 1.30% 9.00% NA
Tropical Japonica  504 37.50% 48.20% 0.20% 14.09% NA
Japonica Intermediate  241 20.30% 41.50% 3.73% 34.44% NA
VI/Aromatic  96 26.00% 65.60% 0.00% 8.33% NA
Intermediate  90 50.00% 23.30% 1.11% 25.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1124116182 C -> T LOC_Os11g40450.1 downstream_gene_variant ; 3961.0bp to feature; MODIFIER silent_mutation Average:80.281; most accessible tissue: Callus, score: 92.565 N N N N
vg1124116182 C -> T LOC_Os11g40430-LOC_Os11g40450 intergenic_region ; MODIFIER silent_mutation Average:80.281; most accessible tissue: Callus, score: 92.565 N N N N
vg1124116182 C -> DEL N N silent_mutation Average:80.281; most accessible tissue: Callus, score: 92.565 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)
vg1124116182 C T 0.03 0.03 0.04 0.02 0.02 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1124116182 NA 1.43E-06 mr1047 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
vg1124116182 NA 9.52E-06 mr1063 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
vg1124116182 1.35E-06 2.35E-08 mr1134 Ind_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
vg1124116182 4.86E-06 7.98E-07 mr1135 Ind_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
vg1124116182 NA 9.37E-06 mr1155 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
vg1124116182 NA 2.07E-06 mr1295 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
vg1124116182 7.19E-06 NA mr1295 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
vg1124116182 NA 7.99E-06 mr1504 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
vg1124116182 NA 2.72E-07 mr1543 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
vg1124116182 NA 8.26E-07 mr1096_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
vg1124116182 NA 6.41E-07 mr1111_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
vg1124116182 NA 4.35E-07 mr1133_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
vg1124116182 NA 1.86E-07 mr1144_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
vg1124116182 NA 6.54E-06 mr1246_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