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Search for Variation information by Variation ID:

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

Detailed information for vg0911993571:

Variant ID: vg0911993571 (JBrowse)Variation Type: INDEL
Chromosome: chr09Position: 11993571
Reference Allele: CAlternative Allele: T,A,CCG
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCGCTCACCGACTCAAAAAGATGATCCCATGTTTCATCGCGGAGAAGGGAGGGAGGGAGAAAAGGGGAAGGAGAAGAAGCTTGGGGTGTGTTTGTGACTT[C/T,A,CCG]
TTTTCCAACCCCTCCTTCGTTTTCCACGCGCACATTTTTCAAACTGCTAAACTGTTTTTTCAAAAAAAAGTATCTATACAAACGGTACTTAAAAAATCAA

Reverse complement sequence

TTGATTTTTTAAGTACCGTTTGTATAGATACTTTTTTTTGAAAAAACAGTTTAGCAGTTTGAAAAATGTGCGCGTGGAAAACGAAGGAGGGGTTGGAAAA[G/A,T,CGG]
AAGTCACAAACACACCCCAAGCTTCTTCTCCTTCCCCTTTTCTCCCTCCCTCCCTTCTCCGCGATGAAACATGGGATCATCTTTTTGAGTCGGTGAGCGA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 46.60% 2.70% 4.19% 45.58% T: 0.61%; CCG: 0.28%
All Indica  2759 27.10% 0.10% 2.54% 69.08% T: 0.69%; CCG: 0.40%
All Japonica  1512 83.90% 7.90% 7.47% 0.73% NA
Aus  269 14.10% 0.40% 2.97% 78.07% T: 3.72%; CCG: 0.74%
Indica I  595 11.90% 0.00% 3.53% 83.70% T: 0.50%; CCG: 0.34%
Indica II  465 59.40% 0.00% 2.37% 37.42% T: 0.86%
Indica III  913 17.60% 0.10% 1.86% 78.86% CCG: 0.77%; T: 0.77%
Indica Intermediate  786 30.70% 0.40% 2.67% 65.39% T: 0.64%; CCG: 0.25%
Temperate Japonica  767 87.40% 0.40% 11.86% 0.39% NA
Tropical Japonica  504 75.20% 21.80% 2.58% 0.40% NA
Japonica Intermediate  241 91.30% 2.50% 3.73% 2.49% NA
VI/Aromatic  96 87.50% 0.00% 3.12% 9.38% NA
Intermediate  90 71.10% 4.40% 4.44% 20.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0911993571 C -> DEL N N silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> T LOC_Os09g20020.1 upstream_gene_variant ; 143.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> T LOC_Os09g20030.1 upstream_gene_variant ; 4813.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> T LOC_Os09g20010.1 downstream_gene_variant ; 4008.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> T LOC_Os09g20024.1 downstream_gene_variant ; 434.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> T LOC_Os09g20010.2 downstream_gene_variant ; 4028.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> T LOC_Os09g20020-LOC_Os09g20024 intergenic_region ; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> CCG LOC_Os09g20020.1 upstream_gene_variant ; 144.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> CCG LOC_Os09g20030.1 upstream_gene_variant ; 4812.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> CCG LOC_Os09g20010.1 downstream_gene_variant ; 4009.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> CCG LOC_Os09g20024.1 downstream_gene_variant ; 433.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> CCG LOC_Os09g20010.2 downstream_gene_variant ; 4029.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> CCG LOC_Os09g20020-LOC_Os09g20024 intergenic_region ; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> A LOC_Os09g20020.1 upstream_gene_variant ; 143.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> A LOC_Os09g20030.1 upstream_gene_variant ; 4813.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> A LOC_Os09g20010.1 downstream_gene_variant ; 4008.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> A LOC_Os09g20024.1 downstream_gene_variant ; 434.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> A LOC_Os09g20010.2 downstream_gene_variant ; 4028.0bp to feature; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 N N N N
vg0911993571 C -> A LOC_Os09g20020-LOC_Os09g20024 intergenic_region ; MODIFIER silent_mutation Average:84.648; most accessible tissue: Callus, score: 93.734 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)
vg0911993571 C A -0.03 -0.02 -0.01 -0.02 -0.03 -0.04
vg0911993571 C CCG 0.1 0.23 0.29 0.11 0.15 0.11
vg0911993571 C T -0.06 -0.04 -0.02 -0.03 -0.04 -0.05

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0911993571 NA 7.82E-09 mr1217 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
vg0911993571 NA 5.21E-07 mr1583 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
vg0911993571 NA 9.52E-06 mr1700 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
vg0911993571 NA 2.64E-06 mr1830 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
vg0911993571 NA 2.70E-07 mr1845 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
vg0911993571 1.89E-06 1.89E-06 mr1984 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
vg0911993571 NA 1.92E-06 mr1077_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
vg0911993571 NA 2.32E-06 mr1123_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
vg0911993571 NA 2.33E-06 mr1220_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
vg0911993571 NA 3.87E-06 mr1243_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
vg0911993571 NA 3.36E-07 mr1250_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
vg0911993571 NA 1.86E-07 mr1495_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
vg0911993571 NA 1.24E-06 mr1638_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
vg0911993571 NA 6.60E-06 mr1646_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
vg0911993571 NA 1.53E-08 mr1800_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
vg0911993571 NA 7.92E-06 mr1896_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
vg0911993571 NA 9.41E-06 mr1929_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
vg0911993571 NA 6.13E-07 mr1936_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