Variant report

Variant	rs12550318
Chromosome Location	chr8:52051529-52051530
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10100485	0.81[EUR][1000 genomes]
rs11775484	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12541840	0.81[EUR][1000 genomes]
rs12544225	0.81[EUR][1000 genomes]
rs12549225	0.81[EUR][1000 genomes]
rs12549244	0.81[EUR][1000 genomes]
rs17735096	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17797441	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1869755	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869756	0.81[EUR][1000 genomes]
rs1869757	0.81[EUR][1000 genomes]
rs2045249	0.81[EUR][1000 genomes]
rs2045250	0.81[EUR][1000 genomes]
rs2198700	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28391242	0.81[EUR][1000 genomes]
rs28499187	0.81[EUR][1000 genomes]
rs28535699	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28612111	0.81[EUR][1000 genomes]
rs28625320	0.81[EUR][1000 genomes]
rs4266664	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4873179	0.81[EUR][1000 genomes]
rs4873180	0.81[EUR][1000 genomes]
rs4873182	0.81[EUR][1000 genomes]
rs62506784	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62506785	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62506786	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6473576	0.81[EUR][1000 genomes]
rs6473578	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987549	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6991875	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014100	0.81[EUR][1000 genomes]
rs72651922	0.81[EUR][1000 genomes]
rs7824553	0.81[EUR][1000 genomes]
rs7825572	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7827814	0.80[EUR][1000 genomes]
rs7833102	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7833259	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7840774	0.81[EUR][1000 genomes]
rs7841651	0.81[EUR][1000 genomes]
rs7844265	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs967610	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv2764079	chr8:51881783-52202880	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv465679	chr8:51883927-52189796	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv611350	chr8:51883927-52189796	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1030378	chr8:51892949-52191830	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1031155	chr8:51907530-52173218	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1028519	chr8:52038750-52076383	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv611352	chr8:52042419-52076217	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	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	chr8:52048600-52051800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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