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Detailed information for vg1211852525:

Variant ID: vg1211852525 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 11852525
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACGCCTCGTTGCCGGCCCGGACTGCGGCACTCGAGGCTGAACGCAAGGCCTTGGACGAAGAAAGCGGGAGCGGGGGTGACGATAGCGATGAAGACTGGGA[C/T]
AACATCGTCAGCGGCGCCGGCCTCGGAGGGCCGGGCACCCCGTGACTATCCGCGCCTTCAATTCCCTCTTGTTGTGCGCCCGTAGCGGGCACTTCTTGTA

Reverse complement sequence

TACAAGAAGTGCCCGCTACGGGCGCACAACAAGAGGGAATTGAAGGCGCGGATAGTCACGGGGTGCCCGGCCCTCCGAGGCCGGCGCCGCTGACGATGTT[G/A]
TCCCAGTCTTCATCGCTATCGTCACCCCCGCTCCCGCTTTCTTCGTCCAAGGCCTTGCGTTCAGCCTCGAGTGCCGCAGTCCGGGCCGGCAACGAGGCGT

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 92.70% 1.50% 1.21% 4.59% NA
All Indica  2759 99.50% 0.10% 0.36% 0.04% NA
All Japonica  1512 82.10% 4.60% 2.98% 10.25% NA
Aus  269 83.60% 0.00% 0.00% 16.36% NA
Indica I  595 99.00% 0.00% 1.01% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 99.90% 0.00% 0.00% 0.11% NA
Indica Intermediate  786 99.20% 0.30% 0.51% 0.00% NA
Temperate Japonica  767 78.60% 7.40% 4.56% 9.39% NA
Tropical Japonica  504 92.50% 0.00% 0.20% 7.34% NA
Japonica Intermediate  241 71.80% 5.40% 3.73% 19.09% NA
VI/Aromatic  96 88.50% 0.00% 0.00% 11.46% NA
Intermediate  90 91.10% 0.00% 2.22% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1211852525 C -> DEL LOC_Os12g20290.1 N frameshift_variant Average:76.089; most accessible tissue: Zhenshan97 flag leaf, score: 94.689 N N N N
vg1211852525 C -> T LOC_Os12g20290.1 synonymous_variant ; p.Asp750Asp; LOW synonymous_codon Average:76.089; most accessible tissue: Zhenshan97 flag leaf, score: 94.689 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)
vg1211852525 C T 0.0 0.0 0.0 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1211852525 NA 4.35E-07 mr1298_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
vg1211852525 NA 3.36E-06 mr1318_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
vg1211852525 NA 1.38E-06 mr1510_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
vg1211852525 NA 1.50E-08 mr1702_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
vg1211852525 3.01E-06 3.01E-06 mr1711_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
vg1211852525 NA 7.88E-07 mr1731_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
vg1211852525 NA 6.60E-06 mr1788_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