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Detailed information for vg1217924507:

Variant ID: vg1217924507 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 17924507
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.98, T: 0.02, others allele: 0.00, population size: 115. )

Flanking Sequence (100 bp) in Reference Genome:


TCGAAAGAAAACAAAATTAGGGATTCTGGCCCTATTTATATTTCAATTTTTTTTCTTCAAACTTTCAACTTTTCCATCACATCGAACTTTCCTACACACA[C/T]
AAACTTTCAATTTTTCCATCACATCGTTTCAATTTCTTCAAACTTTTAATTTTGGTGTAGAACTAAACACAGCCTCTGTTTGAAGTATACAAAGCATTTT

Reverse complement sequence

AAAATGCTTTGTATACTTCAAACAGAGGCTGTGTTTAGTTCTACACCAAAATTAAAAGTTTGAAGAAATTGAAACGATGTGATGGAAAAATTGAAAGTTT[G/A]
TGTGTGTAGGAAAGTTCGATGTGATGGAAAAGTTGAAAGTTTGAAGAAAAAAAATTGAAATATAAATAGGGCCAGAATCCCTAATTTTGTTTTCTTTCGA

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 84.90% 15.10% 0.04% 0.00% NA
All Indica  2759 78.70% 21.20% 0.07% 0.00% NA
All Japonica  1512 92.30% 7.70% 0.00% 0.00% NA
Aus  269 99.30% 0.70% 0.00% 0.00% NA
Indica I  595 57.50% 42.40% 0.17% 0.00% NA
Indica II  465 85.80% 14.20% 0.00% 0.00% NA
Indica III  913 88.10% 11.90% 0.00% 0.00% NA
Indica Intermediate  786 79.80% 20.10% 0.13% 0.00% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 79.60% 20.40% 0.00% 0.00% NA
Japonica Intermediate  241 95.00% 5.00% 0.00% 0.00% NA
VI/Aromatic  96 95.80% 4.20% 0.00% 0.00% NA
Intermediate  90 95.60% 4.40% 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
vg1217924507 C -> T LOC_Os12g29980.1 downstream_gene_variant ; 4952.0bp to feature; MODIFIER silent_mutation Average:82.625; most accessible tissue: Callus, score: 92.026 N N N N
vg1217924507 C -> T LOC_Os12g29990.1 downstream_gene_variant ; 12.0bp to feature; MODIFIER silent_mutation Average:82.625; most accessible tissue: Callus, score: 92.026 N N N N
vg1217924507 C -> T LOC_Os12g29980.2 downstream_gene_variant ; 4952.0bp to feature; MODIFIER silent_mutation Average:82.625; most accessible tissue: Callus, score: 92.026 N N N N
vg1217924507 C -> T LOC_Os12g29990.4 downstream_gene_variant ; 12.0bp to feature; MODIFIER silent_mutation Average:82.625; most accessible tissue: Callus, score: 92.026 N N N N
vg1217924507 C -> T LOC_Os12g29990.2 downstream_gene_variant ; 85.0bp to feature; MODIFIER silent_mutation Average:82.625; most accessible tissue: Callus, score: 92.026 N N N N
vg1217924507 C -> T LOC_Os12g29980-LOC_Os12g29990 intergenic_region ; MODIFIER silent_mutation Average:82.625; most accessible tissue: Callus, score: 92.026 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)
vg1217924507 C T -0.01 -0.01 -0.01 -0.01 -0.01 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1217924507 NA 2.94E-07 mr1364 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
vg1217924507 NA 2.43E-07 mr1443 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
vg1217924507 NA 4.23E-06 mr1461 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
vg1217924507 NA 4.57E-06 mr1511 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
vg1217924507 5.40E-07 5.40E-07 mr1582 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
vg1217924507 NA 1.11E-06 mr1582 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
vg1217924507 NA 2.08E-07 mr1772 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
vg1217924507 NA 2.28E-06 mr1772 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
vg1217924507 NA 4.62E-06 mr1884 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
vg1217924507 NA 8.48E-06 mr1170_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
vg1217924507 NA 3.73E-09 mr1227_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
vg1217924507 NA 8.40E-07 mr1227_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
vg1217924507 NA 2.26E-07 mr1235_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
vg1217924507 NA 7.86E-06 mr1308_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
vg1217924507 NA 1.39E-06 mr1498_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