Variant report

Variant	rs2220972
Chromosome Location	chr8:86253296-86253297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10091582	0.88[ASN][1000 genomes]
rs10097917	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10099251	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10107686	0.94[ASN][1000 genomes]
rs10110461	0.88[ASN][1000 genomes]
rs10111971	0.88[ASN][1000 genomes]
rs1032551	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11261471	0.82[ASN][1000 genomes]
rs11261474	0.83[ASN][1000 genomes]
rs12541299	0.87[ASN][1000 genomes]
rs12541445	0.82[ASN][1000 genomes]
rs12544332	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550814	0.81[ASN][1000 genomes]
rs13252971	0.83[ASN][1000 genomes]
rs1390712	0.81[ASN][1000 genomes]
rs1496530	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1496531	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1496532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1496533	0.92[ASN][1000 genomes]
rs1532424	0.83[ASN][1000 genomes]
rs1553016	0.88[ASN][1000 genomes]
rs1553017	0.88[ASN][1000 genomes]
rs1809819	0.90[ASN][1000 genomes]
rs1995057	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2132590	0.81[ASN][1000 genomes]
rs2173044	0.82[ASN][1000 genomes]
rs2279700	0.85[ASN][1000 genomes]
rs2279701	0.81[ASN][1000 genomes]
rs2291787	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28374336	0.88[ASN][1000 genomes]
rs35558766	0.88[ASN][1000 genomes]
rs6605613	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7001359	0.82[ASN][1000 genomes]
rs725605	0.83[ASN][1000 genomes]
rs7824715	0.83[ASN][1000 genomes]
rs7826511	0.92[ASN][1000 genomes]
rs9329908	0.81[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
rs2220972	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs2220972	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86238800-86254800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:86244800-86263600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:86251400-86254000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr8:86251600-86254000	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr8:86253000-86257200	Weak transcription	Psoas Muscle	Psoas

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