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Detailed information for vg0629851797:

Variant ID: vg0629851797 (JBrowse)Variation Type: INDEL
Chromosome: chr06Position: 29851797
Reference Allele: TAlternative Allele: TACAATAGCAGACTATAAAATAGTAGCTATAAAC,TACAACTATAAACTAGTAGCTATAAGC,TACAATAGCAGACTATAAACTAGTAGCTATAAGC,TACAATAGCAGACTATATAAACTAGTAGCTATAAGC,TACAACAGCAGACTATAAACTAGTAGCTATAAGC,TACAATAGCAGACTGTAAAATAGTAGCTATAAAC
Primary Allele: TACAATAGCAGACTATAAAA TAGTAGCTATAAACSecondary Allele: TACAATAGCAGACTATAAAC TAGTAGCTATAAGC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTGGTGTACTAGGTATGAGCTCAGGAAGCTCATCACGATGATAGCGATGCCACCGGTGACGCCTGTTTACGAGGGAAAAATATGATAGTCTAAGAGCAAG[T/TACAATAGCAGACTATAAAATAGTAGCTATAAAC,TACAACTATAAACTAGTAGCTATAAGC,TACAATAGCAGACTATAAACTAGTAGCTATAAGC,TACAATAGCAGACTATATAAACTAGTAGCTATAAGC,TACAACAGCAGACTATAAACTAGTAGCTATAAGC,TACAATAGCAGACTGTAAAATAGTAGCTATAAAC]
ATATATCGAGAAGAGAAATAAGAAGAGAAGAGTAGCGGGTTACAGATTTATAGTCAGCTGTATCACAAACTACAAGACACAATATGTTTATGATAGGTGG

Reverse complement sequence

CCACCTATCATAAACATATTGTGTCTTGTAGTTTGTGATACAGCTGACTATAAATCTGTAACCCGCTACTCTTCTCTTCTTATTTCTCTTCTCGATATAT[A/GTTTATAGCTACTATTTTATAGTCTGCTATTGTA,GCTTATAGCTACTAGTTTATAGTTGTA,GCTTATAGCTACTAGTTTATAGTCTGCTATTGTA,GCTTATAGCTACTAGTTTATATAGTCTGCTATTGTA,GCTTATAGCTACTAGTTTATAGTCTGCTGTTGTA,GTTTATAGCTACTATTTTACAGTCTGCTATTGTA]
CTTGCTCTTAGACTATCATATTTTTCCCTCGTAAACAGGCGTCACCGGTGGCATCGCTATCATCGTGATGAGCTTCCTGAGCTCATACCTAGTACACCAG

Allele Frequencies:

Populations Population SizeFrequency of TACAATAGCAGACTATAAAA TAGTAGCTATAAAC(primary allele) Frequency of TACAATAGCAGACTATAAAC TAGTAGCTATAAGC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 49.80% 19.40% 0.40% 0.00% T: 16.89%; TACAACTATAAACTAGTAGCTATAAGC: 12.63%; TACAATAGCAGACTATATAAACTAGTAGCTATAAGC: 0.89%; TACAATAGCAGACTGTAAAATAGTAGCTATAAAC: 0.04%
All Indica  2759 79.80% 10.70% 0.40% 0.00% TACAACTATAAACTAGTAGCTATAAGC: 7.79%; T: 1.01%; TACAATAGCAGACTATATAAACTAGTAGCTATAAGC: 0.14%; TACAATAGCAGACTGTAAAATAGTAGCTATAAAC: 0.07%
All Japonica  1512 2.50% 25.50% 0.13% 0.00% T: 50.00%; TACAACTATAAACTAGTAGCTATAAGC: 19.44%; TACAATAGCAGACTATATAAACTAGTAGCTATAAGC: 2.45%
Aus  269 23.00% 76.60% 0.00% 0.00% T: 0.37%
Indica I  595 88.40% 0.00% 0.50% 0.00% TACAACTATAAACTAGTAGCTATAAGC: 10.59%; T: 0.50%
Indica II  465 56.60% 30.80% 0.00% 0.00% TACAACTATAAACTAGTAGCTATAAGC: 11.83%; T: 0.86%
Indica III  913 89.00% 5.10% 0.22% 0.00% TACAACTATAAACTAGTAGCTATAAGC: 4.16%; T: 1.10%; TACAATAGCAGACTGTAAAATAGTAGCTATAAAC: 0.22%; TACAATAGCAGACTATATAAACTAGTAGCTATAAGC: 0.11%
Indica Intermediate  786 76.50% 13.50% 0.76% 0.00% TACAACTATAAACTAGTAGCTATAAGC: 7.51%; T: 1.40%; TACAATAGCAGACTATATAAACTAGTAGCTATAAGC: 0.38%
Temperate Japonica  767 3.40% 3.30% 0.00% 0.00% T: 90.09%; TACAATAGCAGACTATATAAACTAGTAGCTATAAGC: 2.22%; TACAACTATAAACTAGTAGCTATAAGC: 1.04%
Tropical Japonica  504 1.00% 64.10% 0.40% 0.00% TACAACTATAAACTAGTAGCTATAAGC: 32.14%; T: 2.18%; TACAATAGCAGACTATATAAACTAGTAGCTATAAGC: 0.20%
Japonica Intermediate  241 2.90% 15.40% 0.00% 0.00% TACAACTATAAACTAGTAGCTATAAGC: 51.45%; T: 22.41%; TACAATAGCAGACTATATAAACTAGTAGCTATAAGC: 7.88%
VI/Aromatic  96 4.20% 11.50% 3.12% 0.00% TACAACTATAAACTAGTAGCTATAAGC: 80.21%; T: 1.04%
Intermediate  90 50.00% 20.00% 3.33% 0.00% T: 13.33%; TACAACTATAAACTAGTAGCTATAAGC: 12.22%; TACAATAGCAGACTATATAAACTAGTAGCTATAAGC: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0629851797 T -> TACAATAGCAGACTATATAAACTAGTAGCT ATAAGC LOC_Os06g49270.1 upstream_gene_variant ; 4854.0bp to feature; MODIFIER silent_mutation Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAATAGCAGACTATATAAACTAGTAGCT ATAAGC LOC_Os06g49260.1 intron_variant ; MODIFIER silent_mutation Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAACAGCAGACTATAAACTAGTAGCTAT AAGC LOC_Os06g49270.1 upstream_gene_variant ; 4854.0bp to feature; MODIFIER N Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAACAGCAGACTATAAACTAGTAGCTAT AAGC LOC_Os06g49260.1 intron_variant ; MODIFIER N Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAATAGCAGACTATAAAATAGTAGCTAT AAAC LOC_Os06g49270.1 upstream_gene_variant ; 4854.0bp to feature; MODIFIER silent_mutation Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAATAGCAGACTATAAAATAGTAGCTAT AAAC LOC_Os06g49260.1 intron_variant ; MODIFIER silent_mutation Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAATAGCAGACTGTAAAATAGTAGCTAT AAAC LOC_Os06g49270.1 upstream_gene_variant ; 4854.0bp to feature; MODIFIER silent_mutation Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAATAGCAGACTGTAAAATAGTAGCTAT AAAC LOC_Os06g49260.1 intron_variant ; MODIFIER silent_mutation Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAACTATAAACTAGTAGCTATAAGC LOC_Os06g49270.1 upstream_gene_variant ; 4854.0bp to feature; MODIFIER silent_mutation Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAACTATAAACTAGTAGCTATAAGC LOC_Os06g49260.1 intron_variant ; MODIFIER silent_mutation Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAATAGCAGACTATAAACTAGTAGCTAT AAGC LOC_Os06g49270.1 upstream_gene_variant ; 4854.0bp to feature; MODIFIER silent_mutation Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 N N N N
vg0629851797 T -> TACAATAGCAGACTATAAACTAGTAGCTAT AAGC LOC_Os06g49260.1 intron_variant ; MODIFIER silent_mutation Average:68.964; most accessible tissue: Minghui63 root, score: 94.747 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)
vg0629851797 T TACAA* -0.47 -0.25 -0.01 0.06 -0.08 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0629851797 NA 8.64E-07 mr1090 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
vg0629851797 NA 8.05E-06 mr1211 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
vg0629851797 2.62E-07 1.40E-07 mr1068_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
vg0629851797 4.16E-08 3.47E-10 mr1090_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
vg0629851797 5.34E-06 3.36E-07 mr1094_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
vg0629851797 1.30E-06 1.30E-06 mr1111_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
vg0629851797 NA 6.13E-06 mr1144_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
vg0629851797 1.13E-06 2.36E-07 mr1200_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