Variant report

Variant	rs2080715
Chromosome Location	chr2:53879053-53879054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10865275	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11125515	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11682721	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11684084	0.88[ASN][1000 genomes]
rs11889094	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11896043	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11902691	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12611475	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12620583	0.94[ASN][1000 genomes]
rs12621225	0.82[EUR][1000 genomes]
rs13428898	0.85[EUR][1000 genomes]
rs2111851	0.84[AMR][1000 genomes]
rs2160929	0.97[ASN][1000 genomes]
rs2160930	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2193682	0.88[ASN][1000 genomes]
rs2193683	0.88[ASN][1000 genomes]
rs3770403	0.84[ASN][1000 genomes]
rs3770405	0.83[ASN][1000 genomes]
rs56081372	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56291505	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62139772	0.94[ASN][1000 genomes]
rs62139780	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62139783	0.94[ASN][1000 genomes]
rs62139835	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6713107	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6714891	0.98[ASN][1000 genomes]
rs6727876	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728355	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741239	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6743627	0.92[ASN][1000 genomes]
rs6757393	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7556791	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7557799	0.94[ASN][1000 genomes]
rs7557898	0.94[ASN][1000 genomes]
rs7563054	0.88[ASN][1000 genomes]
rs7584474	0.94[ASN][1000 genomes]
rs7587217	0.93[ASN][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	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv874147	chr2:53772561-53886799	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2080715	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53878800-53880400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:53879000-53879400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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