Variant report

Variant	rs2250259
Chromosome Location	chr4:28433243-28433244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10011519	1.00[AFR][1000 genomes]
rs1024120	0.82[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap]
rs10939211	0.82[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11722931	0.83[AFR][1000 genomes]
rs11726308	0.83[AFR][1000 genomes]
rs11734656	0.83[AFR][1000 genomes]
rs11735854	0.83[AFR][1000 genomes]
rs12507595	0.83[AFR][1000 genomes]
rs12512541	0.83[AFR][1000 genomes]
rs13111729	0.83[AFR][1000 genomes]
rs13114507	0.83[AFR][1000 genomes]
rs13115533	0.83[AFR][1000 genomes]
rs13116091	0.83[AFR][1000 genomes]
rs13126477	0.83[AFR][1000 genomes]
rs13139194	0.83[AFR][1000 genomes]
rs13145217	0.83[AFR][1000 genomes]
rs13145453	0.83[AFR][1000 genomes]
rs1397439	0.83[AFR][1000 genomes]
rs1510696	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1510700	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1705039	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1708967	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17682996	0.83[AFR][1000 genomes]
rs1995911	0.83[AFR][1000 genomes]
rs2666119	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292026	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292027	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292031	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292066	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs292068	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs292069	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs292070	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs292071	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35293178	1.00[AFR][1000 genomes]
rs36124654	1.00[AFR][1000 genomes]
rs4267724	0.83[AFR][1000 genomes]
rs4429724	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs479514	0.83[AFR][1000 genomes]
rs481450	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs569708	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57398190	1.00[AFR][1000 genomes]
rs602888	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs604244	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6448577	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs666451	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs986866	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878775	chr4:28163856-28473048	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000514	chr4:28192982-28445194	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1010133	chr4:28273244-28642942	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1014938	chr4:28277683-28642942	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3356262	chr4:28432254-28433252	Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2250259	SLC34A2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28429200-28445000	Weak transcription	Muscle Satellite Cultured Cells	--

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