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Search for Variation information by Variation ID:

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

Detailed information for vg0626678989:

Variant ID: vg0626678989 (JBrowse)Variation Type: INDEL
Chromosome: chr06Position: 26678989
Reference Allele: AGAlternative Allele: GG,A
Primary Allele: GGSecondary Allele: AG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCGATTTGTATGCAAACTATGCAATTAGTTTTTGTAATCTAAATTTAATGCTCTATGCATGTGTCTAAAGATTCGATGTGTTGTTTTTAGGAAAAAAATT[AG/GG,A]
AAACTATTCAAGGCCTAAGTGAACAAGCATCTACTCCTGTCTAGGCTCAAGGGTCAGGGTGATACCACTGCACTATACCAGCGTCCTACTCCCTCCATCT

Reverse complement sequence

AGATGGAGGGAGTAGGACGCTGGTATAGTGCAGTGGTATCACCCTGACCCTTGAGCCTAGACAGGAGTAGATGCTTGTTCACTTAGGCCTTGAATAGTTT[CT/CC,T]
AATTTTTTTCCTAAAAACAACACATCGAATCTTTAGACACATGCATAGAGCATTAAATTTAGATTACAAAAACTAATTGCATAGTTTGCATACAAATCGC

Allele Frequencies:

Populations Population SizeFrequency of GG(primary allele) Frequency of AG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 65.40% 34.40% 0.15% 0.00% A: 0.02%
All Indica  2759 97.20% 2.60% 0.22% 0.00% A: 0.04%
All Japonica  1512 5.60% 94.40% 0.07% 0.00% NA
Aus  269 98.10% 1.90% 0.00% 0.00% NA
Indica I  595 99.70% 0.20% 0.17% 0.00% NA
Indica II  465 94.80% 5.20% 0.00% 0.00% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 93.60% 5.60% 0.64% 0.00% A: 0.13%
Temperate Japonica  767 4.80% 95.20% 0.00% 0.00% NA
Tropical Japonica  504 8.50% 91.30% 0.20% 0.00% NA
Japonica Intermediate  241 1.70% 98.30% 0.00% 0.00% NA
VI/Aromatic  96 12.50% 87.50% 0.00% 0.00% NA
Intermediate  90 54.40% 45.60% 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
vg0626678989 AG -> A LOC_Os06g44230.1 upstream_gene_variant ; 1150.0bp to feature; MODIFIER silent_mutation Average:71.651; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg0626678989 AG -> A LOC_Os06g44220.1 downstream_gene_variant ; 1795.0bp to feature; MODIFIER silent_mutation Average:71.651; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg0626678989 AG -> A LOC_Os06g44220-LOC_Os06g44230 intergenic_region ; MODIFIER silent_mutation Average:71.651; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg0626678989 AG -> GG LOC_Os06g44230.1 upstream_gene_variant ; 1151.0bp to feature; MODIFIER silent_mutation Average:71.651; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg0626678989 AG -> GG LOC_Os06g44220.1 downstream_gene_variant ; 1794.0bp to feature; MODIFIER silent_mutation Average:71.651; most accessible tissue: Minghui63 panicle, score: 90.624 N N N N
vg0626678989 AG -> GG LOC_Os06g44220-LOC_Os06g44230 intergenic_region ; MODIFIER silent_mutation Average:71.651; most accessible tissue: Minghui63 panicle, score: 90.624 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)
vg0626678989 AG A -0.11 0.0 0.01 0.01 0.0 -0.02
vg0626678989 AG GG 0.0 0.01 0.0 0.03 0.03 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0626678989 NA 1.04E-08 mr1033 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
vg0626678989 NA 4.81E-08 mr1082 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
vg0626678989 4.83E-06 1.85E-07 mr1092 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
vg0626678989 NA 2.00E-06 mr1124 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
vg0626678989 NA 3.41E-06 mr1154 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
vg0626678989 NA 1.49E-06 mr1176 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
vg0626678989 NA 3.65E-15 mr1228 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
vg0626678989 NA 6.09E-11 mr1751 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
vg0626678989 NA 6.83E-07 mr1861 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
vg0626678989 NA 4.27E-07 mr1886 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