Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12429525	0.86[EUR][1000 genomes]
rs12430596	0.84[EUR][1000 genomes]
rs17337616	0.84[EUR][1000 genomes]
rs2224914	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4119501	0.90[EUR][1000 genomes]
rs4119502	0.90[EUR][1000 genomes]
rs4941603	0.87[EUR][1000 genomes]
rs4941604	0.86[EUR][1000 genomes]
rs4942691	0.89[EUR][1000 genomes]
rs4942692	0.89[EUR][1000 genomes]
rs4942694	0.93[EUR][1000 genomes]
rs57427955	0.84[EUR][1000 genomes]
rs59890896	0.89[EUR][1000 genomes]
rs61972192	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7324490	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7981324	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7982387	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7986517	0.84[EUR][1000 genomes]
rs7988528	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7989376	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9526394	0.89[EUR][1000 genomes]
rs9534771	0.86[EUR][1000 genomes]
rs9534822	0.93[EUR][1000 genomes]
rs9534830	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv561589	chr13:48251736-48420218	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561590	chr13:48350699-48399027	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Colorectal cancer (diet interaction)	24743840	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48366000-48375800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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