Variant report

Variant	rs12048306
Chromosome Location	chr1:213750443-213750444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10494961	0.81[EUR][1000 genomes]
rs11120166	0.89[ASN][1000 genomes]
rs12021535	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023183	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12024015	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12024904	0.89[ASN][1000 genomes]
rs12026459	0.98[ASN][1000 genomes]
rs12026491	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12029072	0.96[ASN][1000 genomes]
rs12031624	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12033788	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12040529	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12044414	0.81[EUR][1000 genomes]
rs12044623	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12044697	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12045032	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12049107	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12062055	0.89[ASN][1000 genomes]
rs12062324	0.89[ASN][1000 genomes]
rs12063434	0.89[ASN][1000 genomes]
rs12063736	0.80[EUR][1000 genomes]
rs12077375	0.89[ASN][1000 genomes]
rs12078742	0.89[ASN][1000 genomes]
rs12078860	0.89[ASN][1000 genomes]
rs17021041	0.89[ASN][1000 genomes]
rs17021061	0.89[ASN][1000 genomes]
rs400857	0.83[ASN][1000 genomes]
rs420627	0.83[ASN][1000 genomes]
rs436112	0.85[ASN][1000 genomes]
rs4394615	0.96[ASN][1000 genomes]
rs4475718	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4655299	0.85[ASN][1000 genomes]
rs4655301	0.86[EUR][1000 genomes]
rs55816435	0.98[ASN][1000 genomes]
rs56254675	0.98[ASN][1000 genomes]
rs56352066	0.98[ASN][1000 genomes]
rs56714901	0.89[ASN][1000 genomes]
rs58537941	0.96[ASN][1000 genomes]
rs60223676	0.89[ASN][1000 genomes]
rs61197031	0.89[ASN][1000 genomes]
rs61616602	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6661042	0.89[ASN][1000 genomes]
rs72747785	0.96[ASN][1000 genomes]
rs72747794	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72747798	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72747801	0.96[ASN][1000 genomes]
rs72749621	0.94[ASN][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	nsv832525	chr1:213580476-213782815	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3345878	chr1:213714352-213841547	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3426755	chr1:213714443-213841514	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3378592	chr1:213714463-213841484	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213747400-213758400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:213748200-213754400	Weak transcription	Pancreas	Pancrea
3	chr1:213750400-213750600	Enhancers	Small Intestine	intestine

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