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Detailed information for vg1117748868:

Variant ID: vg1117748868 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 17748868
Reference Allele: CAlternative Allele: T,A,CTATATGA,CATATGA,CATATAA,CTATACGA
Primary Allele: CSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CATTGTTAAATCATGAGTAATTATACGTGAATTAGTCGCAATCTGTATAGTTAGTTAATTTTTAGCCTATATTTAATACTCCATACAGGTGTTCAAACGT[C/T,A,CTATATGA,CATATGA,CATATAA,CTATACGA]
CATGATGTAAGAACTAAACAGGGCCTTATAGTCATTGTAGTCCAGCTGCCTCACCTACCCCAACGACCTCTCAAGATGTTCTTGTGTATAGAATAGTAGT

Reverse complement sequence

ACTACTATTCTATACACAAGAACATCTTGAGAGGTCGTTGGGGTAGGTGAGGCAGCTGGACTACAATGACTATAAGGCCCTGTTTAGTTCTTACATCATG[G/A,T,TCATATAG,TCATATG,TTATATG,TCGTATAG]
ACGTTTGAACACCTGTATGGAGTATTAAATATAGGCTAAAAATTAACTAACTATACAGATTGCGACTAATTCACGTATAATTACTCATGATTTAACAATG

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 20.40% 13.00% 2.54% 42.89% CATATGA: 10.56%; CATATAA: 4.19%; T: 3.00%; CTATACGA: 2.79%; CTATATGA: 0.63%
All Indica  2759 1.80% 10.90% 2.72% 57.09% CATATGA: 17.36%; CTATACGA: 4.71%; T: 4.46%; CATATAA: 0.65%; CTATATGA: 0.29%
All Japonica  1512 54.60% 19.60% 0.99% 23.08% CTATATGA: 0.79%; CATATGA: 0.46%; CATATAA: 0.26%; CTATACGA: 0.13%; T: 0.07%
Aus  269 8.60% 0.40% 10.41% 8.92% CATATAA: 63.20%; T: 5.58%; CTATATGA: 2.97%
Indica I  595 2.50% 17.60% 0.84% 67.23% CTATACGA: 7.56%; T: 3.19%; CATATGA: 0.84%; CATATAA: 0.17%
Indica II  465 1.30% 21.10% 2.80% 28.82% CATATGA: 45.59%; CATATAA: 0.22%; CTATACGA: 0.22%
Indica III  913 1.40% 2.30% 4.05% 67.03% CATATGA: 12.92%; CTATACGA: 5.70%; T: 5.59%; CATATAA: 0.55%; CTATATGA: 0.44%
Indica Intermediate  786 2.00% 9.80% 2.54% 54.58% CATATGA: 18.32%; T: 6.74%; CTATACGA: 4.07%; CATATAA: 1.40%; CTATATGA: 0.51%
Temperate Japonica  767 64.30% 32.10% 0.00% 1.69% CTATATGA: 1.43%; CATATGA: 0.52%
Tropical Japonica  504 27.40% 8.90% 2.58% 59.92% CATATAA: 0.60%; CATATGA: 0.20%; CTATATGA: 0.20%; CTATACGA: 0.20%
Japonica Intermediate  241 80.50% 2.50% 0.83% 14.11% CATATGA: 0.83%; T: 0.41%; CATATAA: 0.41%; CTATACGA: 0.41%
VI/Aromatic  96 47.90% 2.10% 0.00% 45.83% CATATAA: 3.12%; T: 1.04%
Intermediate  90 20.00% 16.70% 2.22% 38.89% CATATGA: 14.44%; CATATAA: 3.33%; T: 2.22%; CTATATGA: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1117748868 C -> CTATACGA LOC_Os11g30530.1 upstream_gene_variant ; 3878.0bp to feature; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> CTATACGA LOC_Os11g30520-LOC_Os11g30530 intergenic_region ; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> A LOC_Os11g30530.1 upstream_gene_variant ; 3879.0bp to feature; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> A LOC_Os11g30520-LOC_Os11g30530 intergenic_region ; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> T LOC_Os11g30530.1 upstream_gene_variant ; 3879.0bp to feature; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> T LOC_Os11g30520-LOC_Os11g30530 intergenic_region ; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> DEL N N silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> CATATAA LOC_Os11g30530.1 upstream_gene_variant ; 3878.0bp to feature; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> CATATAA LOC_Os11g30520-LOC_Os11g30530 intergenic_region ; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> CTATATGA LOC_Os11g30530.1 upstream_gene_variant ; 3878.0bp to feature; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> CTATATGA LOC_Os11g30520-LOC_Os11g30530 intergenic_region ; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> CATATGA LOC_Os11g30530.1 upstream_gene_variant ; 3878.0bp to feature; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 N N N N
vg1117748868 C -> CATATGA LOC_Os11g30520-LOC_Os11g30530 intergenic_region ; MODIFIER silent_mutation Average:76.403; most accessible tissue: Callus, score: 96.752 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)
vg1117748868 C A -0.06 -0.05 -0.03 0.03 -0.01 -0.02
vg1117748868 C CATAT* 0.35 -0.02 -0.17 -0.2 -0.25 -0.24
vg1117748868 C CTATA* 0.39 0.09 -0.11 -0.21 -0.22 -0.2
vg1117748868 C T -0.06 -0.07 -0.05 -0.02 -0.03 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1117748868 NA 9.20E-06 mr1354 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
vg1117748868 NA 9.43E-06 mr1829 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
vg1117748868 NA 3.86E-07 mr1002_2 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
vg1117748868 NA 2.04E-06 mr1060_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
vg1117748868 NA 4.02E-08 mr1138_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
vg1117748868 7.13E-06 6.14E-09 mr1354_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
vg1117748868 NA 1.18E-08 mr1354_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
vg1117748868 NA 2.38E-08 mr1359_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
vg1117748868 NA 9.75E-08 mr1359_2 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
vg1117748868 NA 7.17E-06 mr1428_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
vg1117748868 NA 9.60E-07 mr1478_2 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
vg1117748868 NA 4.24E-06 mr1648_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
vg1117748868 NA 6.51E-06 mr1648_2 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
vg1117748868 NA 6.72E-07 mr1807_2 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
vg1117748868 NA 6.74E-06 mr1902_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
vg1117748868 NA 8.50E-06 mr1971_2 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