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Detailed information for vg0321065461:

Variant ID: vg0321065461 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 21065461
Reference Allele: TAAAlternative Allele: T,AAA,TA,TAAA,CAA
Primary Allele: TAASecondary Allele: AAA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTGACTCTGCATGCGATTCAGCATCCTTGATTATTGGTCTAGTTATAACTTATTCTTAATTAGCTCACGCCACACGATCGACAAGGCTCGGATTTTTTTT[TAA/T,AAA,TA,TAAA,CAA]
AAAAAAAGTTAGGGTACGGTTAGCGGCCGGCGATCTGTCCGACTCACTAGACATATTTTCTTCCTTTTTGAAAGTGAGTCGTGACTGACTAGGATTGCGC

Reverse complement sequence

GCGCAATCCTAGTCAGTCACGACTCACTTTCAAAAAGGAAGAAAATATGTCTAGTGAGTCGGACAGATCGCCGGCCGCTAACCGTACCCTAACTTTTTTT[TTA/A,TTT,TA,TTTA,TTG]
AAAAAAAATCCGAGCCTTGTCGATCGTGTGGCGTGAGCTAATTAAGAATAAGTTATAACTAGACCAATAATCAAGGATGCTGAATCGCATGCAGAGTCAA

Allele Frequencies:

Populations Population SizeFrequency of TAA(primary allele) Frequency of AAA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 40.70% 32.40% 0.30% 0.00% TA: 19.76%; T: 6.73%; CAA: 0.08%; TAAA: 0.02%
All Indica  2759 5.10% 52.20% 0.22% 0.00% TA: 31.13%; T: 11.38%; TAAA: 0.04%
All Japonica  1512 97.50% 2.10% 0.13% 0.00% TA: 0.20%; CAA: 0.07%
Aus  269 77.30% 1.10% 0.00% 0.00% TA: 21.56%
Indica I  595 4.90% 11.10% 0.50% 0.00% TA: 44.71%; T: 38.82%
Indica II  465 3.70% 75.90% 0.22% 0.00% TA: 16.77%; T: 3.44%
Indica III  913 3.10% 64.80% 0.11% 0.00% TA: 31.76%; T: 0.11%; TAAA: 0.11%
Indica Intermediate  786 8.40% 54.50% 0.13% 0.00% TA: 28.63%; T: 8.40%
Temperate Japonica  767 99.60% 0.40% 0.00% 0.00% NA
Tropical Japonica  504 93.80% 5.60% 0.00% 0.00% TA: 0.60%
Japonica Intermediate  241 98.30% 0.40% 0.83% 0.00% CAA: 0.41%
VI/Aromatic  96 62.50% 32.30% 2.08% 0.00% CAA: 3.12%
Intermediate  90 46.70% 28.90% 4.44% 0.00% TA: 15.56%; T: 4.44%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0321065461 TAA -> T LOC_Os03g37930.1 upstream_gene_variant ; 494.0bp to feature; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> T LOC_Os03g37940.1 upstream_gene_variant ; 1091.0bp to feature; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> T LOC_Os03g37930-LOC_Os03g37940 intergenic_region ; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> TA LOC_Os03g37930.1 upstream_gene_variant ; 495.0bp to feature; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> TA LOC_Os03g37940.1 upstream_gene_variant ; 1090.0bp to feature; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> TA LOC_Os03g37930-LOC_Os03g37940 intergenic_region ; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> CAA LOC_Os03g37930.1 upstream_gene_variant ; 493.0bp to feature; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> CAA LOC_Os03g37940.1 upstream_gene_variant ; 1092.0bp to feature; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> CAA LOC_Os03g37930-LOC_Os03g37940 intergenic_region ; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> TAAA LOC_Os03g37930.1 upstream_gene_variant ; 496.0bp to feature; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> TAAA LOC_Os03g37940.1 upstream_gene_variant ; 1089.0bp to feature; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> TAAA LOC_Os03g37930-LOC_Os03g37940 intergenic_region ; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> AAA LOC_Os03g37930.1 upstream_gene_variant ; 493.0bp to feature; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> AAA LOC_Os03g37940.1 upstream_gene_variant ; 1092.0bp to feature; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 N N N N
vg0321065461 TAA -> AAA LOC_Os03g37930-LOC_Os03g37940 intergenic_region ; MODIFIER silent_mutation Average:68.521; most accessible tissue: Callus, score: 94.653 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)
vg0321065461 TAA AAA -0.08 0.03 0.02 0.01 0.01 0.01
vg0321065461 TAA CAA -0.17 0.1 0.06 0.0 0.04 0.01
vg0321065461 TAA T -0.25 0.12 0.08 -0.02 0.04 0.17
vg0321065461 TAA TA -0.24 0.06 0.04 0.0 0.07 0.14
vg0321065461 TAA TAAA -0.2 0.06 -0.04 -0.06 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0321065461 NA 1.40E-20 Grain_length 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
vg0321065461 NA 8.62E-18 Grain_length 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
vg0321065461 NA 5.42E-06 mr1042 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
vg0321065461 NA 6.75E-06 mr1042 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
vg0321065461 NA 5.37E-06 mr1043 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
vg0321065461 NA 3.35E-06 mr1043 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
vg0321065461 NA 2.39E-07 mr1399 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
vg0321065461 NA 1.43E-07 mr1502 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
vg0321065461 NA 2.36E-10 mr1174_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