NERVANALYTICAMissing RegulationGitHub ↗
← all loci

12-rs1790135

Bulk expression

chr12:123,184,688 · index rs1790135 · GWAS p = 7.3×10⁻²⁴

Colocalization evidence (best PP4 per channel)

Bulk expression
0.94
coloc-SuSiE
0.93
Single-cell
0.91
Fetal eQTL
0.46
Splicing
0.92
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)
2
CS mass in fetal regulatory chromatin
0.012
CS mass in adult regulatory chromatin
0.007
Best bulk-eQTL gene
ENSG00000183955
Best single-cell type
Excitatory 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 (18)

GeneTierChain scoreCpGCpG–TSS distDirect eQTL PP4
C12orf65high0.98cg22341471266 kb0.29
ABCB9high0.98cg089342862 kb0.40
KMT5Ahigh0.98cg13010344404 kb0.94
CCDC62high0.94cg1891200677 kb0.66
HIP1Rhigh0.94cg1891200616 kb0.12
VPS37Bhigh0.94cg1891200646 kb0.07
BCL7Ahigh0.93cg16139227994 kb0.81
DNAH10high0.91cg11295761183 kb0.10
DDX55high0.91cg18912006751 kb0.03
OGFOD2high0.91cg130103446 kb0.64
RFLNAhigh0.89cg1129576128 kb0.14
ATP6V0A2high0.81cg18830042996 kb0.44
KNTC1suggestive0.78cg26977846381 kb0.41
RILPL2suggestive0.75cg05171224450 kb0.07
B3GNT4suggestive0.71cg25190513513 kb0.08
CDK2AP1suggestive0.65cg11145412280 kb0.18
CCDC92suggestive0.64cg1772395828 kb0.08
MPHOSPH9suggestive0.53cg25190513527 kb0.54
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.