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Detailed information for vg0102022843:

Variant ID: vg0102022843 (JBrowse)	Variation Type: SNP
Chromosome: chr01	Position: 2022843
Reference Allele: C	Alternative Allele: A
Primary Allele: C	Secondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:

GATCGTGCCGGTGAGGGGCAGAGATGGCGAGGCAAACGCGAGCAACTACGAGCAGCTCATCAGTGATATGGTTTCCTCTTGACATGGCAGCCGCCGCCGC[C/A]
GCAGAAGTCTGGTAAGTTCGTTCGTGAGCTTATCCATTTGATCAAGTATCTTCATTCATGAGCTCATCCATTTGAGCAAGTATCCAACAGTGCACGCGCT

Reverse complement sequence

AGCGCGTGCACTGTTGGATACTTGCTCAAATGGATGAGCTCATGAATGAAGATACTTGATCAAATGGATAAGCTCACGAACGAACTTACCAGACTTCTGC[G/T]
GCGGCGGCGGCTGCCATGTCAAGAGGAAACCATATCACTGATGAGCTGCTCGTAGTTGCTCGCGTTTGCCTCGCCATCTCTGCCCCTCACCGGCACGATC

Allele Frequencies:

Populations	Population Size	Frequency of C(primary allele)	Frequency of A(secondary allele)	Frequency of N	Frequency of DEL	Frequency of others Allele
All	4726	97.20%	2.10%	0.66%	0.00%	NA
All Indica	2759	100.00%	0.00%	0.04%	0.00%	NA
All Japonica	1512	91.60%	6.50%	1.92%	0.00%	NA
Aus	269	99.60%	0.40%	0.00%	0.00%	NA
Indica I	595	100.00%	0.00%	0.00%	0.00%	NA
Indica II	465	100.00%	0.00%	0.00%	0.00%	NA
Indica III	913	100.00%	0.00%	0.00%	0.00%	NA
Indica Intermediate	786	99.90%	0.00%	0.13%	0.00%	NA
Temperate Japonica	767	95.40%	2.50%	2.09%	0.00%	NA
Tropical Japonica	504	94.80%	4.20%	0.99%	0.00%	NA
Japonica Intermediate	241	72.60%	24.10%	3.32%	0.00%	NA
VI/Aromatic	96	99.00%	0.00%	1.04%	0.00%	NA
Intermediate	90	100.00%	0.00%	0.00%	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
vg0102022843	C -> A	LOC_Os01g04540.1	upstream_gene_variant ; 1036.0bp to feature; MODIFIER	silent_mutation	Average:94.314; most accessible tissue: Zhenshan97 root, score: 97.901	N	N	N	N
vg0102022843	C -> A	LOC_Os01g04520.1	downstream_gene_variant ; 4786.0bp to feature; MODIFIER	silent_mutation	Average:94.314; most accessible tissue: Zhenshan97 root, score: 97.901	N	N	N	N
vg0102022843	C -> A	LOC_Os01g04530.1	downstream_gene_variant ; 676.0bp to feature; MODIFIER	silent_mutation	Average:94.314; most accessible tissue: Zhenshan97 root, score: 97.901	N	N	N	N
vg0102022843	C -> A	LOC_Os01g04530-LOC_Os01g04540	intergenic_region ; MODIFIER	silent_mutation	Average:94.314; most accessible tissue: Zhenshan97 root, score: 97.901	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)
vg0102022843	C	A	0.0	-0.04	-0.05	-0.01	-0.01	0.0

Putative Genotype-Phenotype Associations:

Var ID	LMM P-value	LR P-value	Trait	Subpopulation	Is leadSNP	Publication
vg0102022843	NA	2.11E-06	mr1117	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
vg0102022843	NA	8.28E-06	mr1123	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
vg0102022843	NA	2.62E-06	mr1247	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
vg0102022843	NA	1.00E-06	mr1496	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
vg0102022843	NA	1.15E-06	mr1117_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
vg0102022843	NA	8.14E-08	mr1183_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
vg0102022843	NA	8.23E-07	mr1496_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
vg0102022843	NA	8.63E-06	mr1788_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