Variant report

Variant	rs1809819
Chromosome Location	chr8:86231348-86231349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86230907..86232624-chr8:86289786..86291561,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133742	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10091582	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097917	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10099251	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10107686	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110461	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10111971	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11261469	0.86[ASN][1000 genomes]
rs11261471	0.90[ASN][1000 genomes]
rs12114575	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12541299	0.94[ASN][1000 genomes]
rs12541445	0.90[ASN][1000 genomes]
rs12543256	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12544332	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12679400	0.80[ASN][1000 genomes]
rs1496531	0.91[ASN][1000 genomes]
rs1496532	0.91[ASN][1000 genomes]
rs1496533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1553016	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1553017	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1845891	0.87[ASN][1000 genomes]
rs1845892	0.84[ASN][1000 genomes]
rs1908762	0.87[ASN][1000 genomes]
rs1995057	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1995058	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2006767	0.86[ASN][1000 genomes]
rs2132590	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2220972	0.90[ASN][1000 genomes]
rs2279700	0.92[ASN][1000 genomes]
rs2279701	0.88[ASN][1000 genomes]
rs2291787	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2403104	0.81[ASN][1000 genomes]
rs28374336	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28439950	0.84[ASN][1000 genomes]
rs28564613	0.80[ASN][1000 genomes]
rs35558766	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808539	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4609189	0.87[ASN][1000 genomes]
rs4617148	0.87[ASN][1000 genomes]
rs4739698	0.84[ASN][1000 genomes]
rs4740045	0.80[ASN][1000 genomes]
rs4740047	0.87[ASN][1000 genomes]
rs6605613	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6993316	0.87[ASN][1000 genomes]
rs6994113	0.80[ASN][1000 genomes]
rs7001359	0.90[ASN][1000 genomes]
rs7011001	0.80[ASN][1000 genomes]
rs7826511	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7835303	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7839129	0.86[ASN][1000 genomes]
rs903895	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs903897	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9329908	0.88[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	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1809819	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs1809819	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86230200-86233000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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