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Detailed information for vg0324923610:

Variant ID: vg0324923610 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 24923610
Reference Allele: GTGGCTGTGACTTAAlternative Allele: ATGGCTGTGACTTA,G
Primary Allele: GTGGCTGTGACTTASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGTGGAGGATTTAAAAATGTAGTAATTTAATAGAGAAGATGTCATAGCTAATTGCATGTTTGTATGCATGTCTTATATTATACTAGAATATTTAAGAAAA[GTGGCTGTGACTTA/ATGGCTGTGACTTA,G]
TGGAATGGAGGGAGTATTTAGTTACTGGAAACTCCTCCAAACCGTGCCTAAGTATATTACTAGTACTAGCATGCAGGGTAGCATCTCGTGCGGGTGCCAG

Reverse complement sequence

CTGGCACCCGCACGAGATGCTACCCTGCATGCTAGTACTAGTAATATACTTAGGCACGGTTTGGAGGAGTTTCCAGTAACTAAATACTCCCTCCATTCCA[TAAGTCACAGCCAC/TAAGTCACAGCCAT,C]
TTTTCTTAAATATTCTAGTATAATATAAGACATGCATACAAACATGCAATTAGCTATGACATCTTCTCTATTAAATTACTACATTTTTAAATCCTCCACT

Allele Frequencies:

Populations Population SizeFrequency of GTGGCTGTGACTTA(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 81.60% 8.40% 1.63% 0.00% ATGGCTGTGACTTA: 8.38%
All Indica  2759 77.60% 5.80% 2.75% 0.00% ATGGCTGTGACTTA: 13.77%
All Japonica  1512 99.70% 0.00% 0.00% 0.00% ATGGCTGTGACTTA: 0.26%
Aus  269 17.80% 82.20% 0.00% 0.00% NA
Indica I  595 98.20% 0.50% 1.01% 0.00% ATGGCTGTGACTTA: 0.34%
Indica II  465 42.60% 3.00% 9.68% 0.00% ATGGCTGTGACTTA: 44.73%
Indica III  913 83.90% 12.00% 0.11% 0.00% ATGGCTGTGACTTA: 3.94%
Indica Intermediate  786 75.60% 4.30% 3.05% 0.00% ATGGCTGTGACTTA: 17.05%
Temperate Japonica  767 99.70% 0.00% 0.00% 0.00% ATGGCTGTGACTTA: 0.26%
Tropical Japonica  504 99.80% 0.00% 0.00% 0.00% ATGGCTGTGACTTA: 0.20%
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.00% ATGGCTGTGACTTA: 0.41%
VI/Aromatic  96 91.70% 8.30% 0.00% 0.00% NA
Intermediate  90 77.80% 7.80% 1.11% 0.00% ATGGCTGTGACTTA: 13.33%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0324923610 GTGGCTGTGACTTA -> ATGGCTGTGACTTA LOC_Os03g44330.1 downstream_gene_variant ; 4287.0bp to feature; MODIFIER silent_mutation Average:62.891; most accessible tissue: Minghui63 panicle, score: 91.227 N N N N
vg0324923610 GTGGCTGTGACTTA -> ATGGCTGTGACTTA LOC_Os03g44320-LOC_Os03g44330 intergenic_region ; MODIFIER silent_mutation Average:62.891; most accessible tissue: Minghui63 panicle, score: 91.227 N N N N
vg0324923610 GTGGCTGTGACTTA -> G LOC_Os03g44330.1 downstream_gene_variant ; 4286.0bp to feature; MODIFIER silent_mutation Average:62.891; most accessible tissue: Minghui63 panicle, score: 91.227 N N N N
vg0324923610 GTGGCTGTGACTTA -> G LOC_Os03g44320-LOC_Os03g44330 intergenic_region ; MODIFIER silent_mutation Average:62.891; most accessible tissue: Minghui63 panicle, score: 91.227 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)
vg0324923610 GTGGC* ATGGC* -0.15 0.03 0.02 -0.03 -0.03 -0.03
vg0324923610 GTGGC* G 0.15 0.46 0.35 -0.27 0.04 0.2

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0324923610 NA 1.15E-10 Grain_width Ind_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0324923610 NA 7.92E-06 mr1188 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
vg0324923610 NA 3.64E-06 mr1193 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
vg0324923610 NA 9.44E-06 mr1598 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
vg0324923610 NA 2.40E-06 mr1607 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
vg0324923610 NA 4.08E-07 mr1974 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
vg0324923610 NA 2.95E-06 mr1974 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
vg0324923610 NA 1.55E-13 mr1188_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
vg0324923610 NA 1.45E-09 mr1188_2 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
vg0324923610 NA 3.28E-06 mr1291_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
vg0324923610 NA 1.03E-06 mr1448_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
vg0324923610 NA 3.76E-06 mr1543_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
vg0324923610 NA 4.87E-06 mr1931_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
vg0324923610 NA 1.83E-06 mr1931_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
vg0324923610 NA 3.49E-07 mr1974_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