NERVANALYTICAMissing RegulationGitHub ↗
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3-rs2710323

Bulk expression

chr3:52,781,889 · index rs2710323 · GWAS p = 5.8×10⁻²¹

Colocalization evidence (best PP4 per channel)

Bulk expression
0.96
coloc-SuSiE
0.98
Single-cell
0.78
Fetal eQTL
0.92
Splicing
0.99
Methylation
0.99

Vertical line marks the PP4 = 0.8 threshold.

How to read these bars
What this data is
The strongest between this locus’s GWAS signal and each evidence channel, taking the best across every dataset in the channel.
How to read it
Bars fill toward 1. Solid bars pass the 0.8 threshold used sitewide; faded bars fall short; a dash means no dataset in the channel yielded a valid test here, usually because too few variants were shared between the studies. Treat a passing bar as evidence that the GWAS signal and that molecular trait plausibly share one causal variant, not as proof that the trait causes the disease.

Fine-mapping and annotation

GWAS credible sets (SuSiE)
1
CS mass in fetal regulatory chromatin
0.022
CS mass in adult regulatory chromatin
0.022
Best bulk-eQTL gene
ENSG00000163938
Best single-cell type
Inhibitory neurons
External
UCSC browser ↗
What these annotations mean
Reading guide
come from fine-mapping of the GWAS: each is the smallest set of variants 95% likely to contain the causal variant for one independent signal, so a count above one means this locus carries multiple signals. The two chromatin numbers give the fraction of credible-set probability falling in (enhancer or promoter states) of fetal versus adult brain; a high fetal value beside a low adult one hints at a developmental window. The best bulk gene and best single-cell type are the strongest direct expression matches, listed even when they fall below threshold.

Gene nominations via methylation chain (21)

GeneTierChain scoreCpGCpG–TSS distDirect eQTL PP4
NEK4high0.99cg14845053529 kb0.46
GNL3high0.99cg14845053439 kb0.96
GLYCTKhigh0.99cg1484505345 kb0.75
PBRM1high0.98cg14845053444 kb0.09
PPM1Mhigh0.98cg11156132953 kb0.48
RFT1high0.96cg01966117636 kb0.06
TKThigh0.95cg1115613257 kb0.13
STIMATEhigh0.95cg11156132302 kb0.14
ITIH4high0.93cg00748718418 kb0.05
PRKCDhigh0.91cg01966117661 kb0.11
SFMBT1high0.90cg19033906452 kb0.18
NISCHhigh0.88cg14845053213 kb0.09
GLT8D1high0.83cg01966117211 kb0.15
ITIH3high0.81cg11156132404 kb0.27
TNNC1suggestive0.79cg0196611741 kb0.12
SPCS1suggestive0.78cg01966117210 kb0.57
DNAH1suggestive0.78cg07507251217 kb0.15
TLR9suggestive0.72cg01966117256 kb0.00
NT5DC2suggestive0.69cg075072512 kb0.37
TWF2suggestive0.60cg00150837449 kb0.12
BAP1suggestive0.53cg0196611784 kb0.34
How to read these nominations
Reading guide
Each row is a : the GWAS signal colocalizes with a CpG’s methylation signal, and the same methylation signal colocalizes with this gene’s expression in independent data. The chain score is the weaker of the two links, and the bands it (high means at least 0.8). CpG-to- distance is a plausibility check, since regulatory contacts weaken with distance, and the direct eQTL PP4 column shows what direct expression testing said at this locus. Nominations are ranked hypotheses for follow-up, not confirmed target genes.