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Detailed information for vg1225476545:

Variant ID: vg1225476545 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 25476545
Reference Allele: CTCTTCTAlternative Allele: TTCTTCT,CTCTTCTTCT,CTCT,CTTCTTCT,C,CTCTTCTTCTTCTTCTTCTTCT
Primary Allele: TTCTTCTSecondary Allele: CTCTTCT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTCCTCTATAAATGCATGCCCATCCATCCAAAAAGCCAAGCCTGAAACACTTTGGTTGAACCAACCTCGTTCTCTCTAGATAGCTAGCTAGCCATCTCTC[CTCTTCT/TTCTTCT,CTCTTCTTCT,CTCT,CTTCTTCT,C,CTCTTCTTCTTCTTCTTCTTCT]
TCTTCTTCTTCTTCTTCTTCCATCAAGCTCACTCATCTTGAGTTCTTGGTGAATTCAAGATTCATGGTATATACTAGTATACTACATATCATGAGCACAA

Reverse complement sequence

TTGTGCTCATGATATGTAGTATACTAGTATATACCATGAATCTTGAATTCACCAAGAACTCAAGATGAGTGAGCTTGATGGAAGAAGAAGAAGAAGAAGA[AGAAGAG/AGAAGAA,AGAAGAAGAG,AGAG,AGAAGAAG,G,AGAAGAAGAAGAAGAAGAAGAG]
GAGAGATGGCTAGCTAGCTATCTAGAGAGAACGAGGTTGGTTCAACCAAAGTGTTTCAGGCTTGGCTTTTTGGATGGATGGGCATGCATTTATAGAGGAA

Allele Frequencies:

Populations Population SizeFrequency of TTCTTCT(primary allele) Frequency of CTCTTCT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 35.90% 33.60% 12.12% 6.35% CTCT: 11.07%; CTTCTTCT: 0.57%; CTCTTCTTCTTCTTCTTCTTCT: 0.19%; CTCTTCTTCT: 0.19%
All Indica  2759 59.00% 12.00% 16.89% 10.66% CTCT: 0.62%; CTCTTCTTCTTCTTCTTCTTCT: 0.33%; CTCTTCTTCT: 0.29%; CTTCTTCT: 0.22%
All Japonica  1512 3.00% 58.00% 5.75% 0.13% CTCT: 31.68%; CTTCTTCT: 1.32%; CTCTTCTTCT: 0.07%
Aus  269 1.10% 97.00% 0.37% 0.00% CTCT: 1.12%; CTTCTTCT: 0.37%
Indica I  595 40.70% 26.10% 25.88% 5.71% CTCTTCTTCT: 1.34%; CTTCTTCT: 0.17%; CTCT: 0.17%
Indica II  465 68.60% 4.10% 14.84% 10.32% CTCT: 1.94%; CTCTTCTTCTTCTTCTTCTTCT: 0.22%
Indica III  913 65.80% 6.20% 11.61% 15.33% CTCTTCTTCTTCTTCTTCTTCT: 0.55%; CTTCTTCT: 0.44%
Indica Intermediate  786 59.20% 12.80% 17.43% 9.16% CTCT: 0.89%; CTCTTCTTCTTCTTCTTCTTCT: 0.38%; CTTCTTCT: 0.13%
Temperate Japonica  767 3.90% 75.10% 8.08% 0.00% CTCT: 12.26%; CTTCTTCT: 0.52%; CTCTTCTTCT: 0.13%
Tropical Japonica  504 1.20% 47.40% 1.79% 0.40% CTCT: 48.41%; CTTCTTCT: 0.79%
Japonica Intermediate  241 4.10% 25.70% 6.64% 0.00% CTCT: 58.51%; CTTCTTCT: 4.98%
VI/Aromatic  96 3.10% 84.40% 1.04% 0.00% CTCT: 11.46%
Intermediate  90 17.80% 43.30% 20.00% 4.44% CTCT: 14.44%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1225476545 CTCTTCT -> C LOC_Os12g41124.1 upstream_gene_variant ; 3961.0bp to feature; MODIFIER N Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> C LOC_Os12g41120-LOC_Os12g41124 intergenic_region ; MODIFIER N Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> CTCT LOC_Os12g41124.1 upstream_gene_variant ; 3958.0bp to feature; MODIFIER silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> CTCT LOC_Os12g41120-LOC_Os12g41124 intergenic_region ; MODIFIER silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> CTCTTCTTCTTCTTCTTCTTCT LOC_Os12g41124.1 upstream_gene_variant ; 3955.0bp to feature; MODIFIER silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> CTCTTCTTCTTCTTCTTCTTCT LOC_Os12g41120-LOC_Os12g41124 intergenic_region ; MODIFIER silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> CTCTTCTTCT LOC_Os12g41124.1 upstream_gene_variant ; 3955.0bp to feature; MODIFIER silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> CTCTTCTTCT LOC_Os12g41120-LOC_Os12g41124 intergenic_region ; MODIFIER silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> TTCTTCT LOC_Os12g41124.1 upstream_gene_variant ; 3962.0bp to feature; MODIFIER silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> TTCTTCT LOC_Os12g41120-LOC_Os12g41124 intergenic_region ; MODIFIER silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> CTTCTTCT LOC_Os12g41124.1 upstream_gene_variant ; 3960.0bp to feature; MODIFIER silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> CTTCTTCT LOC_Os12g41120-LOC_Os12g41124 intergenic_region ; MODIFIER silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 N N N N
vg1225476545 CTCTTCT -> DEL N N silent_mutation Average:69.111; most accessible tissue: Callus, score: 93.915 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)
vg1225476545 CTCTT* C 0.22 -0.06 -0.04 0.08 0.16 0.14
vg1225476545 CTCTT* CTCT 0.22 0.0 -0.02 0.07 0.23 0.17
vg1225476545 CTCTT* CTCTT* 0.23 0.08 0.05 0.1 0.24 0.24
vg1225476545 CTCTT* CTTCT* 0.04 -0.03 -0.03 -0.04 0.02 0.02
vg1225476545 CTCTT* TTCTT* -0.01 -0.01 -0.01 -0.03 -0.03 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1225476545 NA 1.78E-06 mr1038 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
vg1225476545 NA 1.85E-07 mr1038 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
vg1225476545 NA 8.14E-07 mr1053 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
vg1225476545 NA 3.42E-07 mr1057 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
vg1225476545 NA 2.59E-06 mr1058 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
vg1225476545 NA 1.88E-06 mr1345 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
vg1225476545 NA 8.43E-07 mr1389 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
vg1225476545 NA 1.43E-08 mr1389 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
vg1225476545 NA 1.71E-09 mr1624 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
vg1225476545 NA 5.89E-06 mr1624 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
vg1225476545 NA 2.83E-09 mr1648 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
vg1225476545 NA 7.79E-13 mr1657 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
vg1225476545 NA 1.85E-12 mr1713 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
vg1225476545 NA 1.03E-07 mr1038_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
vg1225476545 NA 2.04E-09 mr1322_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
vg1225476545 NA 1.04E-14 mr1325_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
vg1225476545 NA 1.14E-13 mr1326_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
vg1225476545 NA 1.27E-07 mr1329_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
vg1225476545 NA 4.76E-06 mr1337_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
vg1225476545 NA 1.79E-06 mr1389_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
vg1225476545 NA 3.35E-07 mr1389_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
vg1225476545 NA 2.14E-08 mr1449_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
vg1225476545 NA 3.03E-06 mr1508_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
vg1225476545 NA 4.12E-07 mr1524_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
vg1225476545 NA 3.45E-08 mr1527_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
vg1225476545 NA 4.15E-07 mr1617_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
vg1225476545 NA 1.98E-10 mr1649_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
vg1225476545 NA 1.32E-10 mr1690_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