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Detailed information for vg0609746842:

Variant ID: vg0609746842 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 9746842
Reference Allele: GAlternative Allele: A
Primary Allele: GSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GTTTGTTCTGTACGTAGTATGAAGTTCATAGCATCGATTACATGACATTTTGATCGATTACAGATTTATTTTGTTATAAATATTGATGTCCATAAAGCGG[G/A]
TGGTGTCATATTATATAAAGTTTTAGTAGTTCATTGGTGAATTTAATTAAGACACTGATCCACACCGGCATCCTCAGGTCATCCAAAAGACAGAGAAGAA

Reverse complement sequence

TTCTTCTCTGTCTTTTGGATGACCTGAGGATGCCGGTGTGGATCAGTGTCTTAATTAAATTCACCAATGAACTACTAAAACTTTATATAATATGACACCA[C/T]
CCGCTTTATGGACATCAATATTTATAACAAAATAAATCTGTAATCGATCAAAATGTCATGTAATCGATGCTATGAACTTCATACTACGTACAGAACAAAC

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 40.10% 32.50% 3.75% 23.64% NA
All Indica  2759 39.10% 34.50% 5.04% 21.42% NA
All Japonica  1512 50.90% 15.10% 2.12% 31.88% NA
Aus  269 1.90% 89.20% 0.74% 8.18% NA
Indica I  595 11.80% 75.10% 1.68% 11.43% NA
Indica II  465 51.00% 15.10% 7.31% 26.67% NA
Indica III  913 50.40% 16.90% 6.24% 26.51% NA
Indica Intermediate  786 39.60% 35.60% 4.83% 19.97% NA
Temperate Japonica  767 54.10% 14.30% 1.17% 30.38% NA
Tropical Japonica  504 50.60% 18.50% 4.17% 26.79% NA
Japonica Intermediate  241 41.50% 10.40% 0.83% 47.30% NA
VI/Aromatic  96 5.20% 89.60% 0.00% 5.21% NA
Intermediate  90 41.10% 35.60% 4.44% 18.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0609746842 G -> A LOC_Os06g16840.1 upstream_gene_variant ; 3320.0bp to feature; MODIFIER silent_mutation Average:61.182; most accessible tissue: Minghui63 root, score: 90.899 N N N N
vg0609746842 G -> A LOC_Os06g16820.1 downstream_gene_variant ; 2964.0bp to feature; MODIFIER silent_mutation Average:61.182; most accessible tissue: Minghui63 root, score: 90.899 N N N N
vg0609746842 G -> A LOC_Os06g16830.1 downstream_gene_variant ; 1647.0bp to feature; MODIFIER silent_mutation Average:61.182; most accessible tissue: Minghui63 root, score: 90.899 N N N N
vg0609746842 G -> A LOC_Os06g16830-LOC_Os06g16840 intergenic_region ; MODIFIER silent_mutation Average:61.182; most accessible tissue: Minghui63 root, score: 90.899 N N N N
vg0609746842 G -> DEL N N silent_mutation Average:61.182; most accessible tissue: Minghui63 root, score: 90.899 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)
vg0609746842 G A 0.0 -0.01 -0.01 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0609746842 5.42E-06 5.42E-06 mr1098 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
vg0609746842 NA 1.02E-07 mr1101 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
vg0609746842 NA 2.20E-06 mr1242 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
vg0609746842 9.56E-06 1.18E-06 mr1247 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
vg0609746842 NA 8.77E-07 mr1495 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
vg0609746842 NA 7.02E-06 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
vg0609746842 2.09E-06 1.27E-07 mr1858 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
vg0609746842 2.09E-06 1.27E-07 mr1859 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
vg0609746842 7.10E-06 1.06E-07 mr1098_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
vg0609746842 NA 1.65E-06 mr1099_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
vg0609746842 NA 1.56E-06 mr1123_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
vg0609746842 1.53E-06 1.46E-08 mr1150_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
vg0609746842 NA 8.79E-06 mr1240_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
vg0609746842 NA 5.65E-06 mr1242_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