NERVANALYTICAMissing RegulationGitHub ↗
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2-rs34181670

Methylation

chr2:27,796,989 · index rs34181670 · GWAS p = 1.2×10⁻⁸

Colocalization evidence (best PP4 per channel)

Bulk expression
0.68
coloc-SuSiE
Single-cell
0.67
Fetal eQTL
0.77
Splicing
0.45
Methylation
0.97

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)
0
CS mass in fetal regulatory chromatin
CS mass in adult regulatory chromatin
Best bulk-eQTL gene
ENSG00000171303
Best single-cell type
OPCs COPs
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 (11)

GeneTierChain scoreCpGCpG–TSS distDirect eQTL PP4
CGREF1high0.94cg23221603378 kb0.34
KHKhigh0.94cg04187433272 kb0.07
SLC35F6high0.94cg0418743350 kb0.15
KCNK3high0.92cg04187433122 kb0.68
MAPRE3high0.89cg1282167956 kb0.10
ABHD1high0.85cg23005057176 kb0.31
CENPAhigh0.84cg0418743350 kb0.08
DPYSL5high0.82cg0125213681 kb0.08
ATRAIDhigh0.81cg24127278425 kb0.10
GTF3C2high0.81cg17682441238 kb0.09
EIF2B4suggestive0.52cg17682441251 kb0.42
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.