\

Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg1219115124:

Variant ID: vg1219115124 (JBrowse)Variation Type: SNP
Chromosome: chr12Position: 19115124
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.00, others allele: 0.00, population size: 116. )

Flanking Sequence (100 bp) in Reference Genome:


TATATCTACTGCTTTTGTTATTTTGTACGTATTGTATGGAAAATGCAGCAGGAGTAGTGATAGTGACGTACGTGGTGTGGGAGGAGGCGTAGTGGAAGAG[G/A]
TTGCCCTTGGCGGAGAAGACGATGGCGGCGACGTCGACGTCGCAGAGGACGGCGATCTCGTGGGCCTTCTTGAGCAGCCCCGGCCGCCGCTTGGAGAAGG

Reverse complement sequence

CCTTCTCCAAGCGGCGGCCGGGGCTGCTCAAGAAGGCCCACGAGATCGCCGTCCTCTGCGACGTCGACGTCGCCGCCATCGTCTTCTCCGCCAAGGGCAA[C/T]
CTCTTCCACTACGCCTCCTCCCACACCACGTACGTCACTATCACTACTCCTGCTGCATTTTCCATACAATACGTACAAAATAACAAAAGCAGTAGATATA

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 58.40% 41.50% 0.19% 0.00% NA
All Indica  2759 30.20% 69.50% 0.25% 0.00% NA
All Japonica  1512 98.90% 1.10% 0.07% 0.00% NA
Aus  269 99.30% 0.40% 0.37% 0.00% NA
Indica I  595 17.50% 82.00% 0.50% 0.00% NA
Indica II  465 37.00% 63.00% 0.00% 0.00% NA
Indica III  913 31.70% 68.10% 0.22% 0.00% NA
Indica Intermediate  786 34.20% 65.50% 0.25% 0.00% NA
Temperate Japonica  767 99.10% 0.90% 0.00% 0.00% NA
Tropical Japonica  504 99.40% 0.60% 0.00% 0.00% NA
Japonica Intermediate  241 97.10% 2.50% 0.41% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 75.60% 24.40% 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
vg1219115124 G -> A LOC_Os12g31748.2 synonymous_variant ; p.Asn53Asn; LOW synonymous_codon Average:80.453; most accessible tissue: Minghui63 root, score: 89.526 N N N N
vg1219115124 G -> A LOC_Os12g31748.1 synonymous_variant ; p.Asn53Asn; LOW synonymous_codon Average:80.453; most accessible tissue: Minghui63 root, score: 89.526 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)
vg1219115124 G A 0.0 0.02 0.02 0.01 0.03 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1219115124 NA 4.30E-07 mr1321 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
vg1219115124 NA 9.08E-06 mr1398 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
vg1219115124 NA 2.97E-12 mr1457 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
vg1219115124 1.15E-09 6.13E-55 mr1458 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
vg1219115124 5.38E-07 4.17E-12 mr1458 Ind_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
vg1219115124 NA 1.56E-07 mr1431_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
vg1219115124 NA 1.83E-19 mr1457_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
vg1219115124 1.17E-07 1.09E-56 mr1458_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
vg1219115124 8.74E-06 2.15E-11 mr1458_2 Ind_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
vg1219115124 NA 2.06E-07 mr1885_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