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Detailed information for vg0234396020:

Variant ID: vg0234396020 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 34396020
Reference Allele: CAlternative Allele: T,CTTCATTTCTAAGTTAATTTAGT,CTTCATTTCTAAGTTAATTTAGTACTAAATGTGAGCATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCATTCCATGAAAAATTAATTTATT,CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGTATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT,CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGCATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT,CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT
Primary Allele: CSecondary Allele: CTTCATTTCTAAGTTAATTT AGTACTGAATGTGAGCATAT CCAGCATTAACTTGTTTTGA GATGGAGTAAGTACTCCCTC CGTTCCATGAAAAATTAATT TATT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGTAAAGAGGTTGGTTTAGAATGGAACAATTTTTAAAGAGAAAATTTCAGTATGAAACTAGTACTCGTAGCTAGCAGCATCGAGATAATAGATGTACTAT[C/T,CTTCATTTCTAAGTTAATTTAGT,CTTCATTTCTAAGTTAATTTAGTACTAAATGTGAGCATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCATTCCATGAAAAATTAATTTATT,CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGTATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT,CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGCATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT,CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT]
ACCGAATGTAACACATATTAATATTATGAATCAAACATCTAATTCTAGATTTTTTTATGGAACGGCTGGAGTACGATAGAGAGGAGGAACCTCATTTGTC

Reverse complement sequence

GACAAATGAGGTTCCTCCTCTCTATCGTACTCCAGCCGTTCCATAAAAAAATCTAGAATTAGATGTTTGATTCATAATATTAATATGTGTTACATTCGGT[G/A,ACTAAATTAACTTAGAAATGAAG,AATAAATTAATTTTTCATGGAATGGAGGGAGTACTTACTCCATCTCAAAACAAGTTAATGCTGGATATGCTCACATTTAGTACTAAATTAACTTAGAAATGAAG,AATAAATTAATTTTTCATGGAACGGAGGGAGTACTTACTCCATCTCAAAACAAGTTAATGCTGGATATACTCACATTCAGTACTAAATTAACTTAGAAATGAAG,AATAAATTAATTTTTCATGGAACGGAGGGAGTACTTACTCCATCTCAAAACAAGTTAATGCTGGATATGCTCACATTCAGTACTAAATTAACTTAGAAATGAAG,AATAAATTAATTTTTCATGGAACAGAGGGAGTACTTACTCCATCTCAAAACAAGTTAATGCTGG]
ATAGTACATCTATTATCTCGATGCTGCTAGCTACGAGTACTAGTTTCATACTGAAATTTTCTCTTTAAAAATTGTTCCATTCTAAACCAACCTCTTTACA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CTTCATTTCTAAGTTAATTT AGTACTGAATGTGAGCATAT CCAGCATTAACTTGTTTTGA GATGGAGTAAGTACTCCCTC CGTTCCATGAAAAATTAATT TATT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 37.70% 11.30% 36.29% 2.09% T: 3.87%; CTTCATTTCTAAGTTAATTTAGT: 3.51%; CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 3.51%; CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGTATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT: 1.16%; CTTCATTTCTAAGTTAATTTAGTACTAAATGTGAGCATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCATTCCATGAAAAATTAATTTATT: 0.51%
All Indica  2759 5.90% 18.20% 55.42% 3.55% T: 5.76%; CTTCATTTCTAAGTTAATTTAGT: 5.51%; CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 3.19%; CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGTATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT: 1.63%; CTTCATTTCTAAGTTAATTTAGTACTAAATGTGAGCATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCATTCCATGAAAAATTAATTTATT: 0.87%
All Japonica  1512 91.50% 0.30% 5.75% 0.07% CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 1.12%; CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGTATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT: 0.66%; CTTCATTTCTAAGTTAATTTAGT: 0.33%; T: 0.26%
Aus  269 59.90% 6.30% 19.33% 0.00% CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 9.29%; T: 4.09%; CTTCATTTCTAAGTTAATTTAGT: 1.12%
Indica I  595 4.40% 6.90% 74.12% 3.19% CTTCATTTCTAAGTTAATTTAGT: 3.87%; CTTCATTTCTAAGTTAATTTAGTACTAAATGTGAGCATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCATTCCATGAAAAATTAATTTATT: 3.19%; T: 2.69%; CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGTATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT: 1.68%
Indica II  465 5.60% 26.00% 51.83% 1.94% T: 7.10%; CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 3.66%; CTTCATTTCTAAGTTAATTTAGT: 3.44%; CTTCATTTCTAAGTTAATTTAGTACTAAATGTGAGCATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCATTCCATGAAAAATTAATTTATT: 0.43%
Indica III  913 5.60% 21.60% 44.25% 5.81% CTTCATTTCTAAGTTAATTTAGT: 7.45%; T: 6.90%; CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 5.81%; CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGTATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT: 2.52%; CTTCATTTCTAAGTTAATTTAGTACTAAATGTGAGCATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCATTCCATGAAAAATTAATTTATT: 0.11%
Indica Intermediate  786 7.50% 18.20% 56.36% 2.16% T: 5.98%; CTTCATTTCTAAGTTAATTTAGT: 5.73%; CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 2.29%; CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGTATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT: 1.53%; CTTCATTTCTAAGTTAATTTAGTACTAAATGTGAGCATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCATTCCATGAAAAATTAATTTATT: 0.25%
Temperate Japonica  767 97.40% 0.40% 1.96% 0.13% CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 0.13%
Tropical Japonica  504 81.30% 0.20% 13.29% 0.00% CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 1.79%; CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGTATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT: 1.79%; CTTCATTTCTAAGTTAATTTAGT: 0.99%; T: 0.60%
Japonica Intermediate  241 93.80% 0.40% 2.07% 0.00% CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 2.90%; T: 0.41%; CTTCATTTCTAAGTTAATTTAGTACTGAATGTGAGTATATCCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCCGTTCCATGAAAAATTAATTTATT: 0.41%
VI/Aromatic  96 31.20% 6.20% 19.79% 0.00% CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 33.33%; T: 6.25%; CTTCATTTCTAAGTTAATTTAGT: 3.12%
Intermediate  90 52.20% 5.60% 31.11% 0.00% CCAGCATTAACTTGTTTTGAGATGGAGTAAGTACTCCCTCTGTTCCATGAAAAATTAATTTATT: 4.44%; T: 3.33%; CTTCATTTCTAAGTTAATTTAGT: 3.33%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0234396020 C -> T LOC_Os02g56240.1 upstream_gene_variant ; 1884.0bp to feature; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> T LOC_Os02g56240-LOC_Os02g56250 intergenic_region ; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> CTTCATTTCTAAGTTAATTTAGTACTGAAT GTGAGTATATCCAGCATTAACTTGTTTTGA GATGGAGTAAGTACTCCCTCCGTTCCATGA AAAATTAATTTATT LOC_Os02g56240.1 upstream_gene_variant ; 1885.0bp to feature; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> CTTCATTTCTAAGTTAATTTAGTACTGAAT GTGAGTATATCCAGCATTAACTTGTTTTGA GATGGAGTAAGTACTCCCTCCGTTCCATGA AAAATTAATTTATT LOC_Os02g56240-LOC_Os02g56250 intergenic_region ; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> DEL N N silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> CTTCATTTCTAAGTTAATTTAGT LOC_Os02g56240.1 upstream_gene_variant ; 1885.0bp to feature; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> CTTCATTTCTAAGTTAATTTAGT LOC_Os02g56240-LOC_Os02g56250 intergenic_region ; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> CCAGCATTAACTTGTTTTGAGATGGAGTAA GTACTCCCTCTGTTCCATGAAAAATTAATT TATT LOC_Os02g56240.1 upstream_gene_variant ; 1885.0bp to feature; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> CCAGCATTAACTTGTTTTGAGATGGAGTAA GTACTCCCTCTGTTCCATGAAAAATTAATT TATT LOC_Os02g56240-LOC_Os02g56250 intergenic_region ; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> CTTCATTTCTAAGTTAATTTAGTACTAAAT GTGAGCATATCCAGCATTAACTTGTTTTGA GATGGAGTAAGTACTCCCTCCATTCCATGA AAAATTAATTTATT LOC_Os02g56240.1 upstream_gene_variant ; 1885.0bp to feature; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> CTTCATTTCTAAGTTAATTTAGTACTAAAT GTGAGCATATCCAGCATTAACTTGTTTTGA GATGGAGTAAGTACTCCCTCCATTCCATGA AAAATTAATTTATT LOC_Os02g56240-LOC_Os02g56250 intergenic_region ; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> CTTCATTTCTAAGTTAATTTAGTACTGAAT GTGAGCATATCCAGCATTAACTTGTTTTGA GATGGAGTAAGTACTCCCTCCGTTCCATGA AAAATTAATTTATT LOC_Os02g56240.1 upstream_gene_variant ; 1885.0bp to feature; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 N N N N
vg0234396020 C -> CTTCATTTCTAAGTTAATTTAGTACTGAAT GTGAGCATATCCAGCATTAACTTGTTTTGA GATGGAGTAAGTACTCCCTCCGTTCCATGA AAAATTAATTTATT LOC_Os02g56240-LOC_Os02g56250 intergenic_region ; MODIFIER silent_mutation Average:96.894; most accessible tissue: Callus, score: 98.638 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)
vg0234396020 C CCAGC* -0.1 -0.07 -0.21 -0.04 -0.11 -0.09
vg0234396020 C CTTCA* 0.04 0.02 -0.19 -0.24 -0.11 0.09
vg0234396020 C T -0.04 -0.01 -0.01 0.0 0.0 0.0

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0234396020 NA 4.00E-06 mr1020_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
vg0234396020 1.11E-06 NA mr1042_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
vg0234396020 NA 2.76E-06 mr1269_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
vg0234396020 NA 1.59E-06 mr1275_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
vg0234396020 NA 9.53E-07 mr1479_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
vg0234396020 3.89E-06 NA mr1502_2 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
vg0234396020 NA 3.19E-08 mr1659_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
vg0234396020 NA 1.25E-06 mr1662_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
vg0234396020 NA 5.28E-07 mr1677_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