Variant report

Variant	rs737359
Chromosome Location	chr2:67950714-67950715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10165761	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10179159	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10188512	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10191089	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10193810	0.83[AMR][1000 genomes]
rs10194001	0.83[AMR][1000 genomes]
rs10203976	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10203980	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13390163	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13405830	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13417798	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13430868	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1367458	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1430773	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1549779	0.88[CEU][hapmap];0.84[AMR][1000 genomes]
rs1549780	0.83[AMR][1000 genomes]
rs1549781	0.83[AMR][1000 genomes]
rs1978657	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4671829	0.88[CEU][hapmap];0.84[AMR][1000 genomes]
rs4671831	0.84[AMR][1000 genomes]
rs4671832	0.83[AMR][1000 genomes]
rs4671833	0.83[AMR][1000 genomes]
rs4671834	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4671835	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4671837	0.80[EUR][1000 genomes]
rs4671838	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62155370	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62155371	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62155409	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62155412	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6717648	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs724567	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7564631	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9309403	0.91[MEX][hapmap]
rs966441	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs966443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs974482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv834250	chr2:67897722-68051532	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	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
rs737359	ASPRV1	cis	parietal	SCAN
rs737359	ACTR2	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67950000-67951000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:67950400-67951000	Enhancers	Adipose Nuclei	Adipose

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