Question: Snp In A Haplotype Chromosome Block
gravatar for brentp
6.6 years ago by
Salt Lake City, UT
brentp23k wrote:

Simply put, my question is: I have a SNP from a GWAS that if I find records associated with it in UCSC snp135, I get 2 records, one on chr17 and one on chr17ctg5hap1, what should I do?

Since it's in that region (which I assume to be a region with strong LD), there are also a bunch of other significant SNPs near-by. Is this interesting or does it present an opportunity for further analysis?

For example, I was thinking maybe certain haplotypes are more likely to be disease-prone? Worth looking into? How?

haplotype snp • 2.1k views
ADD COMMENTlink modified 6.6 years ago by deanna.church1.1k • written 6.6 years ago by brentp23k

That is cool that you found a disease SNP in a haplotype. Is this haplotype under selection? Check outr Do you have some sort of population stratification issue in your GWAS? PCA / ADMIXTURE around your snp / haplotype might be fun to look at. might be fun to use to make a bifrucation plot.

ADD REPLYlink written 6.6 years ago by Zev.Kronenberg11k

it's not a stratification issue. just that region is a hap block. thanks for these ideas. both of them look promising. I had not seen bifurcation plots like that before.

ADD REPLYlink written 6.6 years ago by brentp23k
gravatar for
6.6 years ago by
Bethesda, MD
deanna.church1.1k wrote:

It looks like chr17ctg5hap1 is the H2 haplotype at the MAPT region:

The chromosome contains the H1 haplotype. Because this is an inversion polymorphism, there is recombination suppression in this region. The H2 locus is the predisposing locus for the 17q21 deletion syndrome as it has the segmental duplication configuration to allow for NAHR, while the H1 haplotype does not have this configuration.

ADD COMMENTlink written 6.6 years ago by deanna.church1.1k
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