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Detailed information for vg0700037240:

Variant ID: vg0700037240 (JBrowse)Variation Type: INDEL
Chromosome: chr07Position: 37240
Reference Allele: GAlternative Allele: GTTCCTATCCAAGTGCATGTGGATCACTAGCTTATCACCTA,A
Primary Allele: GTTCCTATCCAAGTGCATGT GGATCACTAGCTTATCACCT ASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTTTCTCCCCATACACACAAGAAAAAAAGAAACCACAAATTCATGTCATGAGAACTGTCAATTCATGTCATGAGAACTGTCAATTCATTGGTTTGATCAT[G/GTTCCTATCCAAGTGCATGTGGATCACTAGCTTATCACCTA,A]
TTAATTCTTGCATGTTTACCCTACTACTTCTCAAGTAGGCAGCACAAACTCTTCTGCTGAGGGATTATATAGCATGTTTGGCGCCTGTTGAGCATGTCCA

Reverse complement sequence

TGGACATGCTCAACAGGCGCCAAACATGCTATATAATCCCTCAGCAGAAGAGTTTGTGCTGCCTACTTGAGAAGTAGTAGGGTAAACATGCAAGAATTAA[C/TAGGTGATAAGCTAGTGATCCACATGCACTTGGATAGGAAC,T]
ATGATCAAACCAATGAATTGACAGTTCTCATGACATGAATTGACAGTTCTCATGACATGAATTTGTGGTTTCTTTTTTTCTTGTGTGTATGGGGAGAAAA

Allele Frequencies:

Populations Population SizeFrequency of GTTCCTATCCAAGTGCATGT GGATCACTAGCTTATCACCT A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 76.80% 22.90% 0.11% 0.00% A: 0.25%
All Indica  2759 94.30% 5.40% 0.07% 0.00% A: 0.22%
All Japonica  1512 40.90% 58.70% 0.13% 0.00% A: 0.26%
Aus  269 92.90% 6.70% 0.00% 0.00% A: 0.37%
Indica I  595 90.60% 9.20% 0.17% 0.00% NA
Indica II  465 93.50% 6.20% 0.00% 0.00% A: 0.22%
Indica III  913 97.90% 1.80% 0.00% 0.00% A: 0.33%
Indica Intermediate  786 93.30% 6.40% 0.13% 0.00% A: 0.25%
Temperate Japonica  767 15.50% 84.40% 0.13% 0.00% NA
Tropical Japonica  504 69.80% 29.40% 0.20% 0.00% A: 0.60%
Japonica Intermediate  241 61.40% 38.20% 0.00% 0.00% A: 0.41%
VI/Aromatic  96 96.90% 2.10% 0.00% 0.00% A: 1.04%
Intermediate  90 73.30% 25.60% 1.11% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0700037240 G -> GTTCCTATCCAAGTGCATGTGGATCACTAG CTTATCACCTA LOC_Os07g01050.1 upstream_gene_variant ; 3505.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700037240 G -> GTTCCTATCCAAGTGCATGTGGATCACTAG CTTATCACCTA LOC_Os07g01060.2 upstream_gene_variant ; 2656.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700037240 G -> GTTCCTATCCAAGTGCATGTGGATCACTAG CTTATCACCTA LOC_Os07g01060.1 intron_variant ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700037240 G -> GTTCCTATCCAAGTGCATGTGGATCACTAG CTTATCACCTA LOC_Os07g01060.3 intron_variant ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700037240 G -> A LOC_Os07g01050.1 upstream_gene_variant ; 3504.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700037240 G -> A LOC_Os07g01060.2 upstream_gene_variant ; 2657.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700037240 G -> A LOC_Os07g01060.1 intron_variant ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0700037240 G -> A LOC_Os07g01060.3 intron_variant ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0700037240 G A 0.0 -0.01 -0.01 -0.01 0.0 0.0
vg0700037240 G GTTCC* -0.04 -0.03 -0.05 -0.08 0.01 0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0700037240 2.68E-06 6.64E-06 mr1209 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
vg0700037240 3.26E-06 5.04E-06 mr1217 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