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Detailed information for vg0224315896:

Variant ID: vg0224315896 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 24315896
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGCAACATCAGTGGCTCAACGCTTCCTGATAACAGCACAGATATGCTCTCTCTTCTTGGTTTCAAGGAAGCCATCACCAACGATCCGTCAGGAGTCTTGA[G/A]
CAACTGGAACACAAGCATCCACCTCTGCAGTTGGAACGGCGTCTGGTGCAGCCCCAAGCACCCCGGGCGAGTCACGGCGCTCAACCTCGCCGGCCAAGGT

Reverse complement sequence

ACCTTGGCCGGCGAGGTTGAGCGCCGTGACTCGCCCGGGGTGCTTGGGGCTGCACCAGACGCCGTTCCAACTGCAGAGGTGGATGCTTGTGTTCCAGTTG[C/T]
TCAAGACTCCTGACGGATCGTTGGTGATGGCTTCCTTGAAACCAAGAAGAGAGAGCATATCTGTGCTGTTATCAGGAAGCGTTGAGCCACTGATGTTGCC

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 71.00% 5.40% 2.24% 21.35% NA
All Indica  2759 76.50% 2.10% 1.05% 20.30% NA
All Japonica  1512 61.80% 10.20% 4.50% 23.54% NA
Aus  269 69.90% 11.50% 2.60% 15.99% NA
Indica I  595 92.80% 0.30% 0.50% 6.39% NA
Indica II  465 77.00% 5.80% 1.08% 16.13% NA
Indica III  913 66.80% 1.20% 1.20% 30.78% NA
Indica Intermediate  786 75.20% 2.40% 1.27% 21.12% NA
Temperate Japonica  767 55.40% 13.30% 6.52% 24.77% NA
Tropical Japonica  504 72.80% 2.00% 1.98% 23.21% NA
Japonica Intermediate  241 58.90% 17.40% 3.32% 20.33% NA
VI/Aromatic  96 56.20% 1.00% 0.00% 42.71% NA
Intermediate  90 76.70% 11.10% 2.22% 10.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0224315896 G -> A LOC_Os02g40180.1 missense_variant ; p.Ser46Asn; MODERATE nonsynonymous_codon ; S46N Average:72.361; most accessible tissue: Zhenshan97 flower, score: 88.675 benign 0.705 TOLERATED 0.15
vg0224315896 G -> DEL LOC_Os02g40180.1 N frameshift_variant Average:72.361; most accessible tissue: Zhenshan97 flower, score: 88.675 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)
vg0224315896 G A -0.01 -0.01 -0.01 -0.03 -0.03 -0.03

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0224315896 6.16E-07 6.16E-07 mr1015 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
vg0224315896 NA 6.91E-06 mr1154 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
vg0224315896 2.58E-06 2.58E-06 mr1935 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