Variant report

Variant	rs7175788
Chromosome Location	chr15:82309234-82309235
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11630156	0.80[MEX][hapmap];0.89[TSI][hapmap]
rs11638911	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17267218	0.89[CEU][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17267289	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28513741	0.85[EUR][1000 genomes]
rs28565868	0.89[EUR][1000 genomes]
rs2867552	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4778956	0.91[TSI][hapmap]
rs4778960	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4778964	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7175143	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833067	chr15:82234980-82450485	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2422504	chr15:82293064-82426400	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7175788	PLEK2	trans	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82307000-82310400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:82307600-82310200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr15:82308200-82331600	Weak transcription	Fetal Brain Female	brain
4	chr15:82308600-82315000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:82308800-82313600	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:82309200-82309400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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