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Detailed information for vg1128496224:

Variant ID: vg1128496224 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 28496224
Reference Allele: AAlternative Allele: C
Primary Allele: ASecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTACGTACATTAGCCCTCATAGCATGGAAAATAGTCATTCAATTTCACACATTGTACCATTATACATGACAACAGAGCACTTCTTTCCTCCCTATACTAT[A/C]
AACAAAAACAACCAGAAAAGCAAATTCTTCTAGCTGTGCATTCACTTTTCCATTTCTGATGCCATGGGTCTTATTCCATATAAAGAAGCATCAGTACAGC

Reverse complement sequence

GCTGTACTGATGCTTCTTTATATGGAATAAGACCCATGGCATCAGAAATGGAAAAGTGAATGCACAGCTAGAAGAATTTGCTTTTCTGGTTGTTTTTGTT[T/G]
ATAGTATAGGGAGGAAAGAAGTGCTCTGTTGTCATGTATAATGGTACAATGTGTGAAATTGAATGACTATTTTCCATGCTATGAGGGCTAATGTACGTAA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 51.50% 4.80% 3.30% 40.46% NA
All Indica  2759 45.80% 1.50% 2.61% 50.02% NA
All Japonica  1512 62.40% 7.10% 4.96% 25.46% NA
Aus  269 26.80% 25.30% 2.97% 44.98% NA
Indica I  595 66.60% 0.30% 1.85% 31.26% NA
Indica II  465 30.80% 0.60% 4.09% 64.52% NA
Indica III  913 42.30% 2.10% 1.31% 54.33% NA
Indica Intermediate  786 43.30% 2.30% 3.82% 50.64% NA
Temperate Japonica  767 56.70% 4.30% 7.95% 31.03% NA
Tropical Japonica  504 77.20% 7.70% 1.19% 13.89% NA
Japonica Intermediate  241 49.80% 14.90% 3.32% 31.95% NA
VI/Aromatic  96 93.80% 1.00% 0.00% 5.21% NA
Intermediate  90 68.90% 6.70% 1.11% 23.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1128496224 A -> DEL N N silent_mutation Average:83.033; most accessible tissue: Callus, score: 95.122 N N N N
vg1128496224 A -> C LOC_Os11g47370.1 upstream_gene_variant ; 479.0bp to feature; MODIFIER silent_mutation Average:83.033; most accessible tissue: Callus, score: 95.122 N N N N
vg1128496224 A -> C LOC_Os11g47360.1 downstream_gene_variant ; 2324.0bp to feature; MODIFIER silent_mutation Average:83.033; most accessible tissue: Callus, score: 95.122 N N N N
vg1128496224 A -> C LOC_Os11g47360-LOC_Os11g47370 intergenic_region ; MODIFIER silent_mutation Average:83.033; most accessible tissue: Callus, score: 95.122 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)
vg1128496224 A C -0.03 0.0 0.02 0.0 -0.01 -0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1128496224 NA 3.06E-06 mr1417 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
vg1128496224 7.95E-06 NA mr1745 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
vg1128496224 1.46E-07 1.46E-07 mr1881 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