Variant report

Variant	rs7530345
Chromosome Location	chr1:71327092-71327093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10443262	0.92[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12039590	0.84[CHB][hapmap];0.89[CHD][hapmap];0.85[ASN][1000 genomes]
rs12729410	0.92[CHB][hapmap];0.95[JPT][hapmap]
rs1325950	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1327451	0.92[ASN][1000 genomes]
rs1327453	0.91[ASN][1000 genomes]
rs1327460	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1409985	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1536537	0.99[ASN][1000 genomes]
rs1576056	0.93[ASN][1000 genomes]
rs2225025	0.92[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs7533733	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7540868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7530345	PTGER3	cis	parietal	SCAN
rs7530345	WDR78	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71327000-71328000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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Input of quick search could be:

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

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