Variant report

Variant	rs12547667
Chromosome Location	chr8:91108016-91108017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10092098	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10104321	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10216992	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10755930	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10956431	0.82[EUR][1000 genomes]
rs11778638	0.82[EUR][1000 genomes]
rs12171665	0.86[EUR][1000 genomes]
rs12549107	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12679577	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13277204	0.82[EUR][1000 genomes]
rs1800645	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805865	0.81[EUR][1000 genomes]
rs1805870	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1805876	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805877	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2074596	0.82[EUR][1000 genomes]
rs2091887	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2091888	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2142093	0.82[EUR][1000 genomes]
rs2142094	0.82[EUR][1000 genomes]
rs2267543	0.82[EUR][1000 genomes]
rs28380191	0.81[EUR][1000 genomes]
rs4960982	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470668	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6470671	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470708	0.82[EUR][1000 genomes]
rs6470709	0.82[EUR][1000 genomes]
rs6470713	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6988013	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6994202	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7012846	0.82[EUR][1000 genomes]
rs71528739	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72671845	0.81[EUR][1000 genomes]
rs7459441	0.82[EUR][1000 genomes]
rs7459577	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7459845	0.85[EUR][1000 genomes]
rs7459846	0.85[EUR][1000 genomes]
rs7460025	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7461859	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7463278	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7463923	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7465539	0.82[EUR][1000 genomes]
rs7815279	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7816839	0.82[EUR][1000 genomes]
rs7821408	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9297784	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9774207	0.88[EUR][1000 genomes]
rs988934	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv34347	chr8:91101339-91179126	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12547667	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91106600-91108200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr8:91107400-91108200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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