Variant report

Variant	rs12751549
Chromosome Location	chr1:192592838-192592839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10429907	0.87[EUR][1000 genomes]
rs10489875	0.86[EUR][1000 genomes]
rs10489876	0.86[EUR][1000 genomes]
rs10733072	0.87[EUR][1000 genomes]
rs10754020	0.87[EUR][1000 genomes]
rs10801133	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10801135	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10921208	0.87[EUR][1000 genomes]
rs10921209	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10921210	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10921212	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12042137	0.87[EUR][1000 genomes]
rs12057462	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12057515	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12062810	0.86[EUR][1000 genomes]
rs12067683	0.86[EUR][1000 genomes]
rs12404054	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12406259	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12406267	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12406286	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12407137	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12410766	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12564890	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1323290	0.86[EUR][1000 genomes]
rs1407819	0.86[EUR][1000 genomes]
rs1977258	0.86[EUR][1000 genomes]
rs3011686	0.86[EUR][1000 genomes]
rs4130930	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4317788	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4338336	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4453020	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4465185	0.85[EUR][1000 genomes]
rs6428113	0.86[EUR][1000 genomes]
rs6428115	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6428116	0.87[EUR][1000 genomes]
rs6428117	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6428118	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6428119	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6658355	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6658458	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6661375	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6661461	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6661679	0.84[EUR][1000 genomes]
rs6682373	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6694759	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7512614	0.88[EUR][1000 genomes]
rs7538087	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7539601	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7539860	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7544573	0.87[EUR][1000 genomes]
rs7544670	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7544767	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7554685	0.86[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv467005	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548659	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv275434	chr1:192584795-192598461	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192589600-192595000	Weak transcription	Stomach Mucosa	stomach

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