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Detailed information for vg1126430567:

Variant ID: vg1126430567 (JBrowse)Variation Type: SNP
Chromosome: chr11Position: 26430567
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATAAATTCGTCTCGCAGTTTACTGACGGATTCTATAATTAGTTTTTTTTATTAGTGCCCAAACATCCCATACGACACCCTATATAATACCTAATGTGACA[T/C]
GCCAAAACTTTAGATCTAAACACCCCCTTAGCTTATAATCATCAGTTCATAGACAACCGATGAGGCCCCTCCAATCGAATCCAGCGTAGGTTTCGGCCAG

Reverse complement sequence

CTGGCCGAAACCTACGCTGGATTCGATTGGAGGGGCCTCATCGGTTGTCTATGAACTGATGATTATAAGCTAAGGGGGTGTTTAGATCTAAAGTTTTGGC[A/G]
TGTCACATTAGGTATTATATAGGGTGTCGTATGGGATGTTTGGGCACTAATAAAAAAAACTAATTATAGAATCCGTCAGTAAACTGCGAGACGAATTTAT

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 90.40% 9.40% 0.28% 0.00% NA
All Indica  2759 98.50% 1.30% 0.14% 0.00% NA
All Japonica  1512 73.70% 25.70% 0.60% 0.00% NA
Aus  269 95.20% 4.80% 0.00% 0.00% NA
Indica I  595 98.30% 1.50% 0.17% 0.00% NA
Indica II  465 98.10% 1.50% 0.43% 0.00% NA
Indica III  913 99.50% 0.50% 0.00% 0.00% NA
Indica Intermediate  786 97.80% 2.00% 0.13% 0.00% NA
Temperate Japonica  767 53.30% 45.60% 1.04% 0.00% NA
Tropical Japonica  504 98.60% 1.40% 0.00% 0.00% NA
Japonica Intermediate  241 86.70% 12.90% 0.41% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 94.40% 5.60% 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
vg1126430567 T -> C LOC_Os11g43760.1 upstream_gene_variant ; 3432.0bp to feature; MODIFIER silent_mutation Average:74.629; most accessible tissue: Zhenshan97 panicle, score: 92.66 N N N N
vg1126430567 T -> C LOC_Os11g43750-LOC_Os11g43760 intergenic_region ; MODIFIER silent_mutation Average:74.629; most accessible tissue: Zhenshan97 panicle, score: 92.66 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)
vg1126430567 T C 0.04 0.04 0.03 0.02 0.04 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1126430567 NA 2.10E-06 mr1555 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
vg1126430567 3.05E-07 NA mr1611 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
vg1126430567 NA 8.05E-08 mr1010_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