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Detailed information for vg0431633623:

Variant ID: vg0431633623 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 31633623
Reference Allele: ACTAATAlternative Allele: GCTAAT,A,CCTAAT
Primary Allele: ACTAATSecondary Allele: GCTAAT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAATTTTGTTCATACTTAACTCAAAATTTCACGAACTGATCACCCTCGAGTCGAAAATTTTCAATCCACATGCAAACTTCTGTAGCTTTCACTAGTCTAC[ACTAAT/GCTAAT,A,CCTAAT]
ATAAAAAGCACCAGTTCATCAAACCCAAATATTTTCTGACCTTTAGATCTATTCATCCAATGGCTCAGATCAAGAGTTGGATCAACCTCTACAATTAGCG

Reverse complement sequence

CGCTAATTGTAGAGGTTGATCCAACTCTTGATCTGAGCCATTGGATGAATAGATCTAAAGGTCAGAAAATATTTGGGTTTGATGAACTGGTGCTTTTTAT[ATTAGT/ATTAGC,T,ATTAGG]
GTAGACTAGTGAAAGCTACAGAAGTTTGCATGTGGATTGAAAATTTTCGACTCGAGGGTGATCAGTTCGTGAAATTTTGAGTTAAGTATGAACAAAATTT

Allele Frequencies:

Populations Population SizeFrequency of ACTAAT(primary allele) Frequency of GCTAAT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 65.00% 1.10% 2.31% 30.53% CCTAAT: 0.78%; A: 0.23%
All Indica  2759 59.20% 0.70% 2.97% 35.74% CCTAAT: 1.16%; A: 0.25%
All Japonica  1512 74.60% 2.20% 1.52% 21.03% CCTAAT: 0.33%; A: 0.26%
Aus  269 69.10% 0.00% 0.74% 30.11% NA
Indica I  595 71.30% 3.20% 1.85% 23.36% CCTAAT: 0.34%
Indica II  465 68.80% 0.00% 1.29% 28.82% CCTAAT: 0.86%; A: 0.22%
Indica III  913 41.70% 0.00% 4.27% 52.14% CCTAAT: 1.42%; A: 0.44%
Indica Intermediate  786 64.60% 0.00% 3.31% 30.15% CCTAAT: 1.65%; A: 0.25%
Temperate Japonica  767 93.50% 4.30% 0.26% 1.96% NA
Tropical Japonica  504 41.10% 0.00% 3.97% 54.17% CCTAAT: 0.60%; A: 0.20%
Japonica Intermediate  241 84.60% 0.40% 0.41% 12.45% A: 1.24%; CCTAAT: 0.83%
VI/Aromatic  96 63.50% 0.00% 1.04% 35.42% NA
Intermediate  90 72.20% 0.00% 1.11% 26.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0431633623 ACTAAT -> A LOC_Os04g53120.1 upstream_gene_variant ; 4475.0bp to feature; MODIFIER silent_mutation Average:75.817; most accessible tissue: Zhenshan97 flower, score: 92.743 N N N N
vg0431633623 ACTAAT -> A LOC_Os04g53110.1 downstream_gene_variant ; 193.0bp to feature; MODIFIER silent_mutation Average:75.817; most accessible tissue: Zhenshan97 flower, score: 92.743 N N N N
vg0431633623 ACTAAT -> A LOC_Os04g53110-LOC_Os04g53120 intergenic_region ; MODIFIER silent_mutation Average:75.817; most accessible tissue: Zhenshan97 flower, score: 92.743 N N N N
vg0431633623 ACTAAT -> DEL N N silent_mutation Average:75.817; most accessible tissue: Zhenshan97 flower, score: 92.743 N N N N
vg0431633623 ACTAAT -> GCTAAT LOC_Os04g53120.1 upstream_gene_variant ; 4476.0bp to feature; MODIFIER silent_mutation Average:75.817; most accessible tissue: Zhenshan97 flower, score: 92.743 N N N N
vg0431633623 ACTAAT -> GCTAAT LOC_Os04g53110.1 downstream_gene_variant ; 192.0bp to feature; MODIFIER silent_mutation Average:75.817; most accessible tissue: Zhenshan97 flower, score: 92.743 N N N N
vg0431633623 ACTAAT -> GCTAAT LOC_Os04g53110-LOC_Os04g53120 intergenic_region ; MODIFIER silent_mutation Average:75.817; most accessible tissue: Zhenshan97 flower, score: 92.743 N N N N
vg0431633623 ACTAAT -> CCTAAT LOC_Os04g53120.1 upstream_gene_variant ; 4476.0bp to feature; MODIFIER silent_mutation Average:75.817; most accessible tissue: Zhenshan97 flower, score: 92.743 N N N N
vg0431633623 ACTAAT -> CCTAAT LOC_Os04g53110.1 downstream_gene_variant ; 192.0bp to feature; MODIFIER silent_mutation Average:75.817; most accessible tissue: Zhenshan97 flower, score: 92.743 N N N N
vg0431633623 ACTAAT -> CCTAAT LOC_Os04g53110-LOC_Os04g53120 intergenic_region ; MODIFIER silent_mutation Average:75.817; most accessible tissue: Zhenshan97 flower, score: 92.743 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)
vg0431633623 ACTAA* A -0.63 -0.23 -0.16 -0.08 -0.16 -0.13
vg0431633623 ACTAA* CCTAA* 0.06 0.0 0.01 0.0 0.01 0.02
vg0431633623 ACTAA* GCTAA* 0.04 0.01 0.01 0.0 0.0 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0431633623 4.19E-09 4.20E-09 mr1067 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
vg0431633623 9.20E-06 9.20E-06 mr1750 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
vg0431633623 4.08E-11 4.08E-11 mr1855 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
vg0431633623 6.91E-06 6.91E-06 mr1004_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
vg0431633623 4.49E-06 4.49E-06 mr1337_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
vg0431633623 4.52E-06 4.52E-06 mr1524_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
vg0431633623 5.51E-06 5.51E-06 mr1669_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
vg0431633623 9.28E-06 9.28E-06 mr1822_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