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Detailed information for vg1209285168:

Variant ID: vg1209285168 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 9285168
Reference Allele: CAlternative Allele: T
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTCGCGTTCTTCGCTGCAGGTGGCGGCGCCATGCGGGAGGTGCTGCTCACGCGGTGGGAGGGGCGGGACGACCAGGTGCTGCTGTACGGTCTCCTCCCGG[C/T]
AGGGGTGGACCACGGCGAGCTCATGGGCAGAGCGCGGTTCTGCCTGTGCCCGACCGGTGACGACGAGGGCGCGGCCGCGGCGAGCCGCCGCGTCGTGGAG

Reverse complement sequence

CTCCACGACGCGGCGGCTCGCCGCGGCCGCGCCCTCGTCGTCACCGGTCGGGCACAGGCAGAACCGCGCTCTGCCCATGAGCTCGCCGTGGTCCACCCCT[G/A]
CCGGGAGGAGACCGTACAGCAGCACCTGGTCGTCCCGCCCCTCCCACCGCGTGAGCAGCACCTCCCGCATGGCGCCGCCACCTGCAGCGAAGAACGCGAC

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 93.30% 4.60% 2.01% 0.08% NA
All Indica  2759 98.90% 0.20% 0.83% 0.00% NA
All Japonica  1512 82.10% 13.40% 4.23% 0.26% NA
Aus  269 98.50% 0.00% 1.49% 0.00% NA
Indica I  595 99.70% 0.20% 0.17% 0.00% NA
Indica II  465 99.60% 0.40% 0.00% 0.00% NA
Indica III  913 98.90% 0.10% 0.99% 0.00% NA
Indica Intermediate  786 98.10% 0.30% 1.65% 0.00% NA
Temperate Japonica  767 92.80% 0.70% 6.00% 0.52% NA
Tropical Japonica  504 64.10% 32.90% 2.98% 0.00% NA
Japonica Intermediate  241 85.90% 12.90% 1.24% 0.00% NA
VI/Aromatic  96 94.80% 4.20% 1.04% 0.00% NA
Intermediate  90 88.90% 7.80% 3.33% 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
vg1209285168 C -> DEL LOC_Os12g16230.1 N frameshift_variant Average:71.983; most accessible tissue: Minghui63 flag leaf, score: 90.43 N N N N
vg1209285168 C -> T LOC_Os12g16230.1 missense_variant ; p.Ala51Val; MODERATE nonsynonymous_codon ; A51V Average:71.983; most accessible tissue: Minghui63 flag leaf, score: 90.43 unknown unknown TOLERATED 0.15

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)
vg1209285168 C T -0.01 -0.02 -0.01 -0.01 -0.01 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1209285168 NA 7.24E-06 mr1117 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
vg1209285168 NA 1.53E-06 mr1119 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
vg1209285168 1.23E-06 6.99E-07 mr1496 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
vg1209285168 NA 2.59E-07 mr1583 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
vg1209285168 7.56E-07 7.55E-07 mr1929 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
vg1209285168 NA 7.62E-08 mr1850_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