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Detailed information for vg0317140190:

Variant ID: vg0317140190 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 17140190
Reference Allele: CAGATTCGTTCTAGTATGAGGTTGAlternative Allele: TAGATTCGTTCTAGTATGAGGTTG,C
Primary Allele: CAGATTCGTTCTAGTATGAG GTTGSecondary Allele: TAGATTCGTTCTAGTATGAG GTTG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATGCATATGTCTAAATATTTGATGTGACGGAAAAGTTAGAAATTTGAAGAAAATAGTTTGAATCTAAACACGGCCAAAAGCAACCTCATACTAAGATATT[CAGATTCGTTCTAGTATGAGGTTG/TAGATTCGTTCTAGTATGAGGTTG,C]
ATTTTTTTTGGGACGAAGAGAGTACACGTGTAGAAATTAAGCTAGAATATGGACACATTTTGGATCGGTCATTGGACACATTCACTGCGAGTTTGAGTCC

Reverse complement sequence

GGACTCAAACTCGCAGTGAATGTGTCCAATGACCGATCCAAAATGTGTCCATATTCTAGCTTAATTTCTACACGTGTACTCTCTTCGTCCCAAAAAAAAT[CAACCTCATACTAGAACGAATCTG/CAACCTCATACTAGAACGAATCTA,G]
AATATCTTAGTATGAGGTTGCTTTTGGCCGTGTTTAGATTCAAACTATTTTCTTCAAATTTCTAACTTTTCCGTCACATCAAATATTTAGACATATGCAT

Allele Frequencies:

Populations Population SizeFrequency of CAGATTCGTTCTAGTATGAG GTTG(primary allele) Frequency of TAGATTCGTTCTAGTATGAG GTTG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 95.70% 2.80% 1.46% 0.00% C: 0.04%
All Indica  2759 99.80% 0.00% 0.07% 0.00% C: 0.07%
All Japonica  1512 87.10% 8.50% 4.37% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 99.80% 0.00% 0.00% 0.00% C: 0.22%
Indica Intermediate  786 99.70% 0.00% 0.25% 0.00% NA
Temperate Japonica  767 77.40% 15.90% 6.65% 0.00% NA
Tropical Japonica  504 99.20% 0.00% 0.79% 0.00% NA
Japonica Intermediate  241 92.50% 2.90% 4.56% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 97.80% 1.10% 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
vg0317140190 CAGATTCGTTCTAGTATGAGGTTG -> C LOC_Os03g30030.1 upstream_gene_variant ; 4304.0bp to feature; MODIFIER silent_mutation Average:72.146; most accessible tissue: Minghui63 flag leaf, score: 95.398 N N N N
vg0317140190 CAGATTCGTTCTAGTATGAGGTTG -> C LOC_Os03g30040.1 upstream_gene_variant ; 1553.0bp to feature; MODIFIER silent_mutation Average:72.146; most accessible tissue: Minghui63 flag leaf, score: 95.398 N N N N
vg0317140190 CAGATTCGTTCTAGTATGAGGTTG -> C LOC_Os03g30050.1 upstream_gene_variant ; 800.0bp to feature; MODIFIER silent_mutation Average:72.146; most accessible tissue: Minghui63 flag leaf, score: 95.398 N N N N
vg0317140190 CAGATTCGTTCTAGTATGAGGTTG -> C LOC_Os03g30060.1 downstream_gene_variant ; 2794.0bp to feature; MODIFIER silent_mutation Average:72.146; most accessible tissue: Minghui63 flag leaf, score: 95.398 N N N N
vg0317140190 CAGATTCGTTCTAGTATGAGGTTG -> C LOC_Os03g30040-LOC_Os03g30050 intergenic_region ; MODIFIER silent_mutation Average:72.146; most accessible tissue: Minghui63 flag leaf, score: 95.398 N N N N
vg0317140190 CAGATTCGTTCTAGTATGAGGTTG -> TAGATTCGTTCTAGTATGAGGTTG LOC_Os03g30030.1 upstream_gene_variant ; 4303.0bp to feature; MODIFIER silent_mutation Average:72.146; most accessible tissue: Minghui63 flag leaf, score: 95.398 N N N N
vg0317140190 CAGATTCGTTCTAGTATGAGGTTG -> TAGATTCGTTCTAGTATGAGGTTG LOC_Os03g30040.1 upstream_gene_variant ; 1552.0bp to feature; MODIFIER silent_mutation Average:72.146; most accessible tissue: Minghui63 flag leaf, score: 95.398 N N N N
vg0317140190 CAGATTCGTTCTAGTATGAGGTTG -> TAGATTCGTTCTAGTATGAGGTTG LOC_Os03g30050.1 upstream_gene_variant ; 801.0bp to feature; MODIFIER silent_mutation Average:72.146; most accessible tissue: Minghui63 flag leaf, score: 95.398 N N N N
vg0317140190 CAGATTCGTTCTAGTATGAGGTTG -> TAGATTCGTTCTAGTATGAGGTTG LOC_Os03g30060.1 downstream_gene_variant ; 2795.0bp to feature; MODIFIER silent_mutation Average:72.146; most accessible tissue: Minghui63 flag leaf, score: 95.398 N N N N
vg0317140190 CAGATTCGTTCTAGTATGAGGTTG -> TAGATTCGTTCTAGTATGAGGTTG LOC_Os03g30040-LOC_Os03g30050 intergenic_region ; MODIFIER silent_mutation Average:72.146; most accessible tissue: Minghui63 flag leaf, score: 95.398 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)
vg0317140190 CAGAT* C 0.3 -0.03 -0.13 0.27 0.17 0.14
vg0317140190 CAGAT* TAGAT* -0.07 -0.04 -0.05 -0.02 -0.04 -0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0317140190 1.75E-08 NA mr1210 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
vg0317140190 4.57E-06 4.65E-10 mr1210 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
vg0317140190 1.77E-07 NA mr1305 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
vg0317140190 NA 9.86E-09 mr1305 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
vg0317140190 7.95E-07 7.95E-07 mr1409 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
vg0317140190 5.87E-07 NA mr1585 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
vg0317140190 NA 6.84E-10 mr1585 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
vg0317140190 2.48E-10 NA mr1586 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
vg0317140190 3.70E-07 7.04E-11 mr1586 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
vg0317140190 1.08E-06 NA mr1765 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
vg0317140190 NA 2.47E-08 mr1765 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
vg0317140190 1.53E-07 NA mr1793 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
vg0317140190 1.84E-06 5.28E-08 mr1793 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
vg0317140190 NA 6.78E-08 mr1305_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
vg0317140190 6.12E-06 2.91E-08 mr1585_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
vg0317140190 NA 1.16E-08 mr1585_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
vg0317140190 NA 4.80E-08 mr1793_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