GenomeScope

Chromosome 1

Human Genome Reference Sequence

100,000 - 200,000 base pairs
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Position:
BRCA1
CFTR
APOE
INS
TP53
EGFR

BRCA1 Gene

150,000 - 160,000 bp

BRCA1 (BReast Cancer Type 1) is a tumor suppressor gene that plays a crucial role in DNA repair and genomic stability. Mutations in BRCA1 are associated with increased risk of breast and ovarian cancer.

Regulatory Region

145,000 - 150,000 bp

This region contains several regulatory elements including enhancers and promoters that control the expression of nearby genes. It shows high conservation across primate species.

SNP Variant

155,000 bp

rs1802040 (C/T) in the CYP1A1 gene. This variant has been associated with increased cancer risk and altered drug metabolism. T allele is more common in East Asian populations.