正文
获取原文件references/regulomedb.md
Regulatory evidence for noncoding SNVs: ENCODE TF ChIP, DNase, motifs,
QTLs. Rank 1a (strongest) through 7 (nothing overlapping). Neighbour of
encode.md and jaspar.md. Not a consequence scorer — for missense impact
use Ensembl VEP (ensembl.md §6, CADD=1).
Search: https://regulomedb.org/regulome-search/
Help: https://regulomedb.org/regulome-help/
The rs6983267 GET response was rechecked on 2026-09-30. Other numeric examples below are historical observations from 2026-09-10, not current guarantees.
Request
GET /regulome-search/?regions={rsID|chr:start-end}&genome=GRCh38&format=json
genome is GRCh38 (preferred) or GRCh37. Default format is HTML.
Coordinates are 0-based half-open, same as BED. A single GRCh38 base
at 1-based position P is chrN:{P-1}-{P}.
Verified calls
GET ...?regions=rs6983267&genome=GRCh38&format=json
regulome_score.ranking 1a, probability 0.93. This is the
example of a regulatory hit.
GET ...?regions=rs28934578&genome=GRCh38&format=json
GET ...?regions=chr17:7675087-7675088&genome=GRCh38&format=json
Both: ranking 4, probability 0.60906. A coding missense with rank 4 is "not what this database is for," not "benign regulatory."
GET ...?regions=chr17:7674220-7674220&genome=GRCh38&format=json
HTTP 200, variants: [], no regulome_score.ranking. Zero-width /
1-based same-number ranges miss the base.
POST /regulome-search/ with a JSON body
HTTP 200, @id /regulome-notfound, @type includes regulome-help.
That historical POST probe did not return search results. Use the documented GET search; an HTTP 200 alone does not establish a valid result.
Traps
- Convert 1-based VEP/CADD positions before building
regions=. - Read
regulome_score.ranking, not a legacyregulomedb_scorefield. probabilityis a string.- Region queries without an rsID return common SNPs (MAF > 1%) in the window, not every possible SNV.
- Rank 7 / missing ranking is "no annotated overlap," not a proof the variant does nothing.