meQTL Cis-Window

Check variant-CpG distance against a supplied cis window.

Description

A cis-window criterion screens distance between a variant and CpG.

A cis-window criterion screens distance between a variant and CpG.1

Check variant-CpG distance against a supplied cis window.

When to use meQTL Cis-Window

Use this tool to check variant-CpG distance against a supplied cis window.

Prepare the already measured signals, counts, coordinates, fitted coefficients or sequence strings requested. Keep assay definitions, units, aligned lists and caller-selected thresholds consistent.

How to use meQTL Cis-Window and understand its results

  1. Prepare the already measured signals, counts, coordinates, fitted coefficients or sequence strings requested. Keep assay definitions, units, aligned lists and caller-selected thresholds consistent.
  2. Enter variantPositionBp, cpgPositionBp, cisWindowBp using the field table and calculation rules, then run the tool.
  3. Read distanceBp, withinCisWindow. The explanation below defines the units, signs, ordering and any flags or placeholder values.
  4. If the tool reports an input issue, correct the values and run it again. Apply the stated assumptions when interpreting a successfully returned result.
Input fieldMeaningValue type; see rules belowRequirement
variantPositionBpVariant positionnumber; minimum: 0Required
cpgPositionBpCpG positionnumber; minimum: 0Required
cisWindowBpCis-window radiusnumber; minimum: 0Required

Enter nonnegative finite positions/window and return distance/inclusive flag.

distance=abs(variantPosition−cpgPosition); pass=distance≤window

Units, indexing, boundary conditions and exceptional cases are defined in the calculation rules above.

Output fieldMeaningValue type
distanceBpVariant-CpG distancenumber; minimum: 0
withinCisWindowWithin cis windowboolean
json
{
  "input": {
    "variantPositionBp": 1000,
    "cpgPositionBp": 1300,
    "cisWindowBp": 500
  },
  "output": {
    "distanceBp": 300,
    "withinCisWindow": true
  }
}

Limitations and assumptions

Fractional positions are accepted; no chromosome match, association or linkage analysis is supplied.

Numeric inputs, where present, must be finite. Follow the calculation-specific rules for overflow, underflow and exceptional cases. Missing required fields, extra fields, wrong value types and violations of the calculation rules are input errors. A successfully returned false flag is an evaluated outcome; its meaning is explained above.

Alternative or Complementary methods

Use CPG Region Classifier: Classify a CpG’s distance from a caller-supplied island. For a complementary task, use TAD Boundary Distance: Measure adjacent TAD boundary distances.

References

  1. meQTL Cis-Window — tool.io

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