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Detailed information for vg0504837001:

Variant ID: vg0504837001 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 4837001
Reference Allele: CGAATGCAGGAAAATCACAATTTCCTTTATAAAGAGTTAACAAAATTGTCTAGTGAAACAAATGTTAACAAAAlternative Allele: AGAATGCAGGAAAATCACAATTTCCTTTATAAAGAGTTAACAAAATTGTCTAGTGAAACAAATGTTAACAAA,C
Primary Allele: CGAATGCAGGAAAATCACAA TTTCCTTTATAAAGAGTTAA CAAAATTGTCTAGTGAAACA AATGTTAACAAASecondary Allele: AGAATGCAGGAAAATCACAA TTTCCTTTATAAAGAGTTAA CAAAATTGTCTAGTGAAACA AATGTTAACAAA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAACAATTTTCAAATGGTCAAATTGTCGAAAATTGTGCCGACATCACGTCCTTAGACTGTCCTGATTTGATCCTAAATGCCTCCAGTAGTCCAGTTTAGC[CGAATGCAGGAAAATCACAATTTCCTTTATAAAGAGTTAACAAAATTGTCTAGTGAAACAAATGTTAACAAA/AGAATGCAGGAAAATCACAATTTCCTTTATAAAGAGTTAACAAAATTGTCTAGTGAAACAAATGTTAACAAA,C]
GGCCGTCTCTCATGTTGGTTTGATTTCCTCCAAATATTCAAGTATAATGTTTTAGATTTTTAATTAAGTTACCTCCTCTGCCTATGTGCTTGTACTCCCA

Reverse complement sequence

TGGGAGTACAAGCACATAGGCAGAGGAGGTAACTTAATTAAAAATCTAAAACATTATACTTGAATATTTGGAGGAAATCAAACCAACATGAGAGACGGCC[TTTGTTAACATTTGTTTCACTAGACAATTTTGTTAACTCTTTATAAAGGAAATTGTGATTTTCCTGCATTCG/TTTGTTAACATTTGTTTCACTAGACAATTTTGTTAACTCTTTATAAAGGAAATTGTGATTTTCCTGCATTCT,G]
GCTAAACTGGACTACTGGAGGCATTTAGGATCAAATCAGGACAGTCTAAGGACGTGATGTCGGCACAATTTTCGACAATTTGACCATTTGAAAATTGTTT

Allele Frequencies:

Populations Population SizeFrequency of CGAATGCAGGAAAATCACAA TTTCCTTTATAAAGAGTTAA CAAAATTGTCTAGTGAAACA AATGTTAACAAA(primary allele) Frequency of AGAATGCAGGAAAATCACAA TTTCCTTTATAAAGAGTTAA CAAAATTGTCTAGTGAAACA AATGTTAACAAA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 68.90% 30.80% 0.30% 0.00% NA
All Indica  2759 61.20% 38.40% 0.40% 0.00% NA
All Japonica  1512 92.70% 7.20% 0.07% 0.00% NA
Aus  269 2.20% 97.40% 0.37% 0.00% NA
Indica I  595 90.10% 9.90% 0.00% 0.00% NA
Indica II  465 29.50% 69.90% 0.65% 0.00% NA
Indica III  913 59.70% 39.90% 0.44% 0.00% NA
Indica Intermediate  786 59.90% 39.60% 0.51% 0.00% NA
Temperate Japonica  767 97.00% 3.00% 0.00% 0.00% NA
Tropical Japonica  504 88.10% 11.70% 0.20% 0.00% NA
Japonica Intermediate  241 88.80% 11.20% 0.00% 0.00% NA
VI/Aromatic  96 90.60% 9.40% 0.00% 0.00% NA
Intermediate  90 78.90% 20.00% 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
vg0504837001 CGAATGCAGGAAAATCACAATTTCCTTTATAAAGAGTTAACAAAATTGTCTAGTGAAACAAATGTTAACAAA -> AGAATGCAGGAAAATCACAATTTCCTTTAT AAAGAGTTAACAAAATTGTCTAGTGAAACA AATGTTAACAAA LOC_Os05g08790.1 upstream_gene_variant ; 1352.0bp to feature; MODIFIER silent_mutation Average:75.981; most accessible tissue: Callus, score: 87.204 N N N N
vg0504837001 CGAATGCAGGAAAATCACAATTTCCTTTATAAAGAGTTAACAAAATTGTCTAGTGAAACAAATGTTAACAAA -> AGAATGCAGGAAAATCACAATTTCCTTTAT AAAGAGTTAACAAAATTGTCTAGTGAAACA AATGTTAACAAA LOC_Os05g08800.1 downstream_gene_variant ; 555.0bp to feature; MODIFIER silent_mutation Average:75.981; most accessible tissue: Callus, score: 87.204 N N N N
vg0504837001 CGAATGCAGGAAAATCACAATTTCCTTTATAAAGAGTTAACAAAATTGTCTAGTGAAACAAATGTTAACAAA -> AGAATGCAGGAAAATCACAATTTCCTTTAT AAAGAGTTAACAAAATTGTCTAGTGAAACA AATGTTAACAAA LOC_Os05g08790-LOC_Os05g08800 intergenic_region ; MODIFIER silent_mutation Average:75.981; most accessible tissue: Callus, score: 87.204 N N N N
vg0504837001 CGAATGCAGGAAAATCACAATTTCCTTTATAAAGAGTTAACAAAATTGTCTAGTGAAACAAATGTTAACAAA -> C LOC_Os05g08790.1 upstream_gene_variant ; 1353.0bp to feature; MODIFIER N Average:75.981; most accessible tissue: Callus, score: 87.204 N N N N
vg0504837001 CGAATGCAGGAAAATCACAATTTCCTTTATAAAGAGTTAACAAAATTGTCTAGTGAAACAAATGTTAACAAA -> C LOC_Os05g08800.1 downstream_gene_variant ; 554.0bp to feature; MODIFIER N Average:75.981; most accessible tissue: Callus, score: 87.204 N N N N
vg0504837001 CGAATGCAGGAAAATCACAATTTCCTTTATAAAGAGTTAACAAAATTGTCTAGTGAAACAAATGTTAACAAA -> C LOC_Os05g08790-LOC_Os05g08800 intergenic_region ; MODIFIER N Average:75.981; most accessible tissue: Callus, score: 87.204 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)
vg0504837001 CGAAT* AGAAT* 0.01 0.0 0.0 0.0 0.0 0.0
vg0504837001 CGAAT* C 0.44 0.58 0.36 0.32 0.25 0.32

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0504837001 NA 1.24E-12 Grain_thickness Ind_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0504837001 2.35E-06 NA Grain_width All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0504837001 4.32E-08 3.26E-23 Grain_width Ind_All Not Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652
vg0504837001 NA 6.41E-06 mr1113 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
vg0504837001 NA 3.89E-06 mr1114 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
vg0504837001 NA 2.89E-07 mr1319 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
vg0504837001 NA 9.36E-06 mr1319 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
vg0504837001 NA 1.49E-06 mr1330 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
vg0504837001 NA 5.10E-09 mr1332 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
vg0504837001 NA 2.43E-06 mr1392 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
vg0504837001 NA 9.21E-06 mr1424 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
vg0504837001 NA 3.02E-08 mr1438 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
vg0504837001 NA 5.56E-06 mr1639 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
vg0504837001 NA 1.43E-06 mr1735 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
vg0504837001 NA 7.94E-09 mr1794 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
vg0504837001 NA 1.51E-06 mr1319_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
vg0504837001 NA 1.52E-07 mr1330_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
vg0504837001 NA 2.41E-06 mr1546_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