Dataset ID
NHA000163
- Type of data
- Fine-mapping for 79 phenotypes
- Access criteria
- Unrestricted-access
- Total data volume
- 4.1 GB
- File formats
- HTML
- ZIP
- Research
- hum0197
- Date published
- 2021-12-21
- Date modified
- 2021-12-21
- Secondary ID
- hum0197.v5.finemap.v1
Unrestricted-access files linked to this dataset
| File | Label | Size | Copy URL |
|---|---|---|---|
| hum0197.v5.finemap.PP.v1.zip | Disease name: Pulse pressure / Abbreviation: PP | 30.0 MB | |
| hum0197.v5.finemap.PrC.v1.zip | Disease name: Prostate cancer / Abbreviation: PrC / ICD10: C61 | 33.4 MB | |
| hum0197.v5.finemap.RA.v1.zip | Disease name: Rheumatoid arthritis / Abbreviation: RA / ICD10: M06 | 8.3 MB | |
| hum0197.v5.finemap.RBC.v1.zip | Disease name: Red blood cell / Abbreviation: RBC | 125 MB | |
| hum0197.v5.finemap.SBP.v1.zip | Disease name: Systolic blood pressure / Abbreviation: SBP | 46.5 MB | |
| hum0197.v5.finemap.T1D.v1.zip | Disease name: Type 1 diabetes / Abbreviation: T1D / ICD10: E10 | 3.0 MB | |
| hum0197.v5.finemap.T2D.v1.zip | Disease name: Type 2 diabetes / Abbreviation: T2D / ICD10: E11 | 135 MB | |
| hum0197.v5.finemap.TBil.v1.zip | Disease name: Total bilirubin / Abbreviation: Tbil | 19.1 MB | |
| hum0197.v5.finemap.TC.v1.zip | Disease name: Total cholesterol / Abbreviation: TC | 61.9 MB | |
| hum0197.v5.finemap.TG.v1.zip | Disease name: Triglycerides / Abbreviation: TG | 40.2 MB | |
| hum0197.v5.finemap.TP.v1.zip | Disease name: Total protein / Abbreviation: TP | 49.4 MB | |
| hum0197.v5.finemap.UA.v1.zip | Disease name: Uric acids / Abbreviation: UA | 55.5 MB | |
| hum0197.v5.finemap.UF.v1.zip | Disease name: Uterine fibroids / Abbreviation: UF / ICD10: D25 | 27.9 MB | |
| hum0197.v5.finemap.Uro.v1.zip | Disease name: Urolithiasis / Abbreviation: Urolithiasis / ICD10: N20.0/N20.2 | 24.5 MB | |
| hum0197.v5.finemap.WBC.v1.zip | Disease name: White blood cell / Abbreviation: WBC | 107 MB | |
| hum0197.v5.finemap.cpd.v1.zip | Disease name: Cigarettes per day / Abbreviation: Smoking_CPD | 7.8 MB | |
| hum0197.v5.finemap.eGFR.v1.zip | Disease name: Estimated glomerular filtration rate / Abbreviation: eGFR | 69.4 MB | |
| hum0197.v5.finemap.ens.v1.zip | Disease name: Smoking (ever vs never) / Abbreviation: Smoking_Ever_Never | 1.6 MB | |
| hum0197.v5.finemap.sCr.v1.zip | Disease name: Serum creatinine / Abbreviation: sCr | 118 MB | |
| hum0197_ | Dictionary file | 36.5 KB |
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Analysis method
genome wide SNPs
- Materials and participants
- Biobank Japan (n = 179,000), no. Phenotypes: 79
- Health statusMixed
- Subject count179,000 (Individual)
- CohortBioBank Japan
- Sample description
- DNAs extracted from peripheral blood cells
- TissuePeripheral blood
- Tumor / normalNormal
- Sample provider
- N/A
- Experimental method
- Genotyping by array
- Target
- N/A
- Reagent kit
- HumanExome BeadChip Kit
HumanOmniExpress BeadChip Kit
HumanOmniExpressExome BeadChip Kit - Platform
- Illumina HumanExome
Illumina HumanOmniExpress
Illumina HumanOmniExpressExome - Reference genome
- GRCh37
- QC and filtering
- GWAS: We included imputed variants with Rsq > 0.7. For binary traits, variants with MAC < 10 were additionally excluded.
Fine-mapping: We defined fine-mapping regions based on a 3 Mb window around each lead variant and merged regions if they overlapped. We excluded the major histocompatibility complex (MHC) region (chr 6: 25-36 Mb) from analysis due to extensive LD structure in the region. For each method, we only included variants from successfully fine-mapped regions while excluding those from failed regions (e.g., due to conversion failure or available memory restrictions). - Imputation
- Eagle, Minimac3
- Analysis method
- GWAS: For binary traits, SAIGE software was used with age, age2, sex, age×sex, age2×sex, and top 20 principal components as covariates. For quantitative traits (biomarkers), BOLT-LMM was used with the same covariates.
Fine-mapping: FINEMAP and SuSiE were used with GWAS summary statistics and in-sample dosage LD, allowing up to 10 causal variants per region. - Variant count
- 13,531,752 variants
- Phenotype data
- Included
- Data use policy
- NBDC data sharing policy (JGAP000001)