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Detailed information for vg1122298599:

Variant ID: vg1122298599 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 22298599
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GAATGCAGGTTAGCTGGAGTAGTAGACAACGTATGTACAGTTGACAGGGAGAGGCTCATGATAACGTTAATTTTAAGACATACCGACCAAATGTATTAGA[C/G]
GTTCTGATAGATGTGGAGTGAGTATATATACAATTTAAGTGTCTATATTTAAAATGTGTTTTAAAAACAAATACTCCTTCACTTACGTTCCTTCACTATT

Reverse complement sequence

AATAGTGAAGGAACGTAAGTGAAGGAGTATTTGTTTTTAAAACACATTTTAAATATAGACACTTAAATTGTATATATACTCACTCCACATCTATCAGAAC[G/C]
TCTAATACATTTGGTCGGTATGTCTTAAAATTAACGTTATCATGAGCCTCTCCCTGTCAACTGTACATACGTTGTCTACTACTCCAGCTAACCTGCATTC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 91.80% 7.80% 0.34% 0.11% NA
All Indica  2759 98.90% 0.70% 0.22% 0.18% NA
All Japonica  1512 77.10% 22.40% 0.53% 0.00% NA
Aus  269 98.50% 0.70% 0.74% 0.00% NA
Indica I  595 99.70% 0.00% 0.34% 0.00% NA
Indica II  465 98.50% 1.50% 0.00% 0.00% NA
Indica III  913 99.90% 0.00% 0.11% 0.00% NA
Indica Intermediate  786 97.30% 1.70% 0.38% 0.64% NA
Temperate Japonica  767 92.20% 7.30% 0.52% 0.00% NA
Tropical Japonica  504 64.50% 35.30% 0.20% 0.00% NA
Japonica Intermediate  241 55.60% 43.20% 1.24% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 91.10% 8.90% 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
vg1122298599 C -> DEL N N silent_mutation Average:62.09; most accessible tissue: Zhenshan97 root, score: 95.586 N N N N
vg1122298599 C -> G LOC_Os11g37720.1 upstream_gene_variant ; 3311.0bp to feature; MODIFIER silent_mutation Average:62.09; most accessible tissue: Zhenshan97 root, score: 95.586 N N N N
vg1122298599 C -> G LOC_Os11g37710.1 downstream_gene_variant ; 3806.0bp to feature; MODIFIER silent_mutation Average:62.09; most accessible tissue: Zhenshan97 root, score: 95.586 N N N N
vg1122298599 C -> G LOC_Os11g37710-LOC_Os11g37720 intergenic_region ; MODIFIER silent_mutation Average:62.09; most accessible tissue: Zhenshan97 root, score: 95.586 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)
vg1122298599 C G 0.01 0.0 0.0 0.01 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1122298599 4.89E-06 3.95E-07 mr1126_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
vg1122298599 NA 7.77E-06 mr1222_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
vg1122298599 NA 7.43E-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
vg1122298599 NA 9.77E-09 mr1662_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
vg1122298599 NA 1.08E-06 mr1662_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
vg1122298599 NA 1.47E-07 mr1765_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
vg1122298599 2.09E-06 NA mr1871_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