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Detailed information for vg0608826344:

Variant ID: vg0608826344 (JBrowse)Variation Type: SNP
Chromosome: chr06Position: 8826344
Reference Allele: CAlternative Allele: A
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.98, A: 0.02, others allele: 0.00, population size: 96. )

Flanking Sequence (100 bp) in Reference Genome:


TGGAACCTCTACCTCGACGAGCCCGCCGCCGTGTGGGCGCCGCACGTCCCGGCGTTCGACTACGCCGTCGTGTCGGCGTCGAGCTGGTTCTACCGGCCGT[C/A]
GATGCTGTACGAGGCCGGCCGGCTCGTCGGGTGCCACCACTGCCTCCTCCCCAACGTCACCGACCTCACGCTGCGGTACGCGCTCCGCATGGCCACCCGC

Reverse complement sequence

GCGGGTGGCCATGCGGAGCGCGTACCGCAGCGTGAGGTCGGTGACGTTGGGGAGGAGGCAGTGGTGGCACCCGACGAGCCGGCCGGCCTCGTACAGCATC[G/T]
ACGGCCGGTAGAACCAGCTCGACGCCGACACGACGGCGTAGTCGAACGCCGGGACGTGCGGCGCCCACACGGCGGCGGGCTCGTCGAGGTAGAGGTTCCA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 62.90% 36.90% 0.17% 0.00% NA
All Indica  2759 38.30% 61.40% 0.25% 0.00% NA
All Japonica  1512 98.90% 1.10% 0.00% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 46.70% 53.30% 0.00% 0.00% NA
Indica II  465 19.40% 80.40% 0.22% 0.00% NA
Indica III  913 50.40% 49.30% 0.33% 0.00% NA
Indica Intermediate  786 29.30% 70.40% 0.38% 0.00% NA
Temperate Japonica  767 99.00% 1.00% 0.00% 0.00% NA
Tropical Japonica  504 99.40% 0.60% 0.00% 0.00% NA
Japonica Intermediate  241 97.90% 2.10% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 60.00% 38.90% 1.11% 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
vg0608826344 C -> A LOC_Os06g15560.1 5_prime_UTR_variant ; 2.0bp to feature; MODIFIER silent_mutation Average:82.115; most accessible tissue: Zhenshan97 panicle, score: 93.936 N N N N
vg0608826344 C -> A LOC_Os06g15550.1 downstream_gene_variant ; 3201.0bp to feature; MODIFIER silent_mutation Average:82.115; most accessible tissue: Zhenshan97 panicle, score: 93.936 N N N N
vg0608826344 C -> A LOC_Os06g15570.1 downstream_gene_variant ; 645.0bp to feature; MODIFIER silent_mutation Average:82.115; most accessible tissue: Zhenshan97 panicle, score: 93.936 N N N N
vg0608826344 C -> A LOC_Os06g15570.2 downstream_gene_variant ; 645.0bp to feature; MODIFIER silent_mutation Average:82.115; most accessible tissue: Zhenshan97 panicle, score: 93.936 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)
vg0608826344 C A 0.01 0.0 0.01 0.01 0.02 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0608826344 NA 9.89E-07 mr1157 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
vg0608826344 NA 1.60E-08 mr1446 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
vg0608826344 NA 6.07E-07 mr1570 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
vg0608826344 NA 2.02E-07 mr1989 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
vg0608826344 NA 8.00E-06 mr1329_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
vg0608826344 NA 4.47E-12 mr1377_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
vg0608826344 NA 4.29E-07 mr1446_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
vg0608826344 NA 8.50E-06 mr1524_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
vg0608826344 NA 2.83E-06 mr1570_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
vg0608826344 NA 3.41E-09 mr1649_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
vg0608826344 NA 2.80E-06 mr1668_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
vg0608826344 NA 7.13E-07 mr1754_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