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Detailed information for vg1120970935:

Variant ID: vg1120970935 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 20970935
Reference Allele: AAlternative Allele: C
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATTTTGTGTGGTGTACTGTAGTAGAAAGAGAAGAAGGGGAGGAGGAAGGGGGGAGAGGAGGGAGGAGTATATACTATAGGAGAGGGGAAGGGGGTGATCG[A/C]
TGGGAGCGATCACCCGCCCAACAGGATTTCCAAACACTAGAGTCATTGGCGGAAAAAAAATTCCATTCTTGAAATAAGTTTTTTTAGGTAAGTTTTTAAA

Reverse complement sequence

TTTAAAAACTTACCTAAAAAAACTTATTTCAAGAATGGAATTTTTTTTCCGCCAATGACTCTAGTGTTTGGAAATCCTGTTGGGCGGGTGATCGCTCCCA[T/G]
CGATCACCCCCTTCCCCTCTCCTATAGTATATACTCCTCCCTCCTCTCCCCCCTTCCTCCTCCCCTTCTTCTCTTTCTACTACAGTACACCACACAAAAT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 60.00% 36.20% 1.93% 1.86% NA
All Indica  2759 90.20% 6.40% 2.14% 1.30% NA
All Japonica  1512 4.80% 90.10% 1.85% 3.24% NA
Aus  269 80.70% 18.20% 0.74% 0.37% NA
Indica I  595 77.30% 18.30% 4.37% 0.00% NA
Indica II  465 94.20% 1.30% 1.72% 2.80% NA
Indica III  913 97.20% 1.50% 0.22% 1.10% NA
Indica Intermediate  786 89.40% 6.00% 2.93% 1.65% NA
Temperate Japonica  767 5.00% 92.00% 2.61% 0.39% NA
Tropical Japonica  504 3.60% 85.90% 1.39% 9.13% NA
Japonica Intermediate  241 7.10% 92.50% 0.41% 0.00% NA
VI/Aromatic  96 14.60% 85.40% 0.00% 0.00% NA
Intermediate  90 46.70% 48.90% 2.22% 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
vg1120970935 A -> DEL N N silent_mutation Average:67.435; most accessible tissue: Callus, score: 96.548 N N N N
vg1120970935 A -> C LOC_Os11g35730.1 upstream_gene_variant ; 3651.0bp to feature; MODIFIER silent_mutation Average:67.435; most accessible tissue: Callus, score: 96.548 N N N N
vg1120970935 A -> C LOC_Os11g35720-LOC_Os11g35730 intergenic_region ; MODIFIER silent_mutation Average:67.435; most accessible tissue: Callus, score: 96.548 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)
vg1120970935 A C -0.01 -0.02 -0.01 0.0 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1120970935 NA 2.09E-18 mr1767 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
vg1120970935 NA 5.04E-13 mr1035_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
vg1120970935 1.93E-06 NA mr1090_2 Jap_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
vg1120970935 1.32E-06 6.84E-06 mr1211_2 Jap_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
vg1120970935 NA 4.17E-06 mr1517_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
vg1120970935 1.08E-06 1.08E-06 mr1527_2 Jap_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
vg1120970935 NA 8.10E-06 mr1577_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
vg1120970935 NA 4.41E-10 mr1595_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