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Detailed information for vg0314935596:

Variant ID: vg0314935596 (JBrowse)Variation Type: SNP
Chromosome: chr03Position: 14935596
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGCCGGCGGGAGCGCGCGCGGTTGCCGGTGGAGAGAAGGCGAGGGGTCAGTCGATGGCAGCGGTGTTCAGGCGAAGTGATCGCGATGGCGAGATAGGCTG[G/A]
GTGCAGGCGGAGTGCGGTTACCGGTCGAGGTCAAGGGAAGGCGGAGGCACGGAGGGCAGGCGTGTTATCGATCGAGAGGTGAGGCGGAGGCGGAGCACGT

Reverse complement sequence

ACGTGCTCCGCCTCCGCCTCACCTCTCGATCGATAACACGCCTGCCCTCCGTGCCTCCGCCTTCCCTTGACCTCGACCGGTAACCGCACTCCGCCTGCAC[C/T]
CAGCCTATCTCGCCATCGCGATCACTTCGCCTGAACACCGCTGCCATCGACTGACCCCTCGCCTTCTCTCCACCGGCAACCGCGCGCGCTCCCGCCGGCG

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 61.10% 37.90% 1.04% 0.00% NA
All Indica  2759 72.30% 27.20% 0.54% 0.00% NA
All Japonica  1512 49.40% 48.70% 1.92% 0.00% NA
Aus  269 1.10% 98.90% 0.00% 0.00% NA
Indica I  595 48.60% 50.40% 1.01% 0.00% NA
Indica II  465 58.90% 40.90% 0.22% 0.00% NA
Indica III  913 87.60% 12.30% 0.11% 0.00% NA
Indica Intermediate  786 80.30% 18.80% 0.89% 0.00% NA
Temperate Japonica  767 15.90% 80.60% 3.52% 0.00% NA
Tropical Japonica  504 83.30% 16.30% 0.40% 0.00% NA
Japonica Intermediate  241 85.10% 14.90% 0.00% 0.00% NA
VI/Aromatic  96 91.70% 8.30% 0.00% 0.00% NA
Intermediate  90 60.00% 34.40% 5.56% 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
vg0314935596 G -> A LOC_Os03g26060.1 stop_gained ; p.Trp142*; HIGH stop_gained Average:91.11; most accessible tissue: Minghui63 root, score: 94.839 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)
vg0314935596 G A -0.2 -0.11 -0.1 -0.11 -0.2 -0.22

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0314935596 NA 2.79E-06 mr1020_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
vg0314935596 4.72E-06 4.72E-06 mr1294_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
vg0314935596 NA 2.51E-06 mr1544_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
vg0314935596 1.40E-06 1.40E-06 mr1604_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
vg0314935596 NA 9.84E-06 mr1646_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
vg0314935596 2.74E-06 2.74E-06 mr1777_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
vg0314935596 6.14E-06 6.14E-06 mr1824_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
vg0314935596 NA 7.49E-06 mr1836_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
vg0314935596 8.76E-06 8.75E-06 mr1840_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
vg0314935596 NA 3.23E-06 mr1923_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