Variant report

Variant	rs71522715
Chromosome Location	chr8:105770631-105770632
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105523437..105529379-chr8:105769112..105773532,5	K562	blood:
2	chr8:105765566..105767323-chr8:105770282..105773574,4	K562	blood:
3	chr8:105600875..105603020-chr8:105769637..105771422,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction
ENSG00000253350	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1000420	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1000421	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10086996	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10087624	0.86[EUR][1000 genomes]
rs10087797	0.86[EUR][1000 genomes]
rs10101771	0.88[EUR][1000 genomes]
rs10102865	0.88[EUR][1000 genomes]
rs10107275	0.88[EUR][1000 genomes]
rs10481103	0.86[EUR][1000 genomes]
rs12542435	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13261603	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13273368	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13274855	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13279815	0.83[EUR][1000 genomes]
rs16871782	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1992212	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2118601	0.88[EUR][1000 genomes]
rs2118602	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2118603	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2164929	0.88[EUR][1000 genomes]
rs28488458	0.87[EUR][1000 genomes]
rs34365221	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34485812	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34856015	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35144052	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3847143	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4392866	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734112	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734808	0.87[EUR][1000 genomes]
rs4734810	0.87[EUR][1000 genomes]
rs6994940	0.86[EUR][1000 genomes]
rs6999308	0.86[EUR][1000 genomes]
rs7009228	0.88[EUR][1000 genomes]
rs718635	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9297348	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv465754	chr8:105764528-105878832	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	nsv611836	chr8:105764528-105878832	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105767200-105771000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:105767200-105771200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:105770400-105770800	Weak transcription	K562	blood

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