Variant report

Variant	rs12547193
Chromosome Location	chr8:60186467-60186468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10088994	0.97[ASN][1000 genomes]
rs10089184	1.00[ASN][1000 genomes]
rs10091892	0.82[AMR][1000 genomes]
rs10095970	0.83[EUR][1000 genomes]
rs10099943	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100411	0.83[EUR][1000 genomes]
rs10103583	0.83[EUR][1000 genomes]
rs10104395	1.00[ASN][1000 genomes]
rs10104633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105498	0.83[EUR][1000 genomes]
rs10112807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113240	0.81[EUR][1000 genomes]
rs11780357	0.81[EUR][1000 genomes]
rs12674861	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678634	0.82[AMR][1000 genomes]
rs13438889	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28409996	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28433486	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28433589	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28502676	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28535519	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28670669	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4329263	1.00[ASN][1000 genomes]
rs6471770	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471771	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471772	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996674	0.83[EUR][1000 genomes]
rs7000999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001107	1.00[ASN][1000 genomes]
rs7001175	1.00[ASN][1000 genomes]
rs7017099	1.00[ASN][1000 genomes]
rs7815739	0.94[ASN][1000 genomes]
rs7822365	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9298008	1.00[ASN][1000 genomes]
rs9298009	1.00[ASN][1000 genomes]
rs9298010	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886422	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9886425	0.83[EUR][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	nsv831328	chr8:60062971-60288276	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1029441	chr8:60099776-60539141	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv539629	chr8:60099776-60539141	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv831329	chr8:60162977-60356031	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60177600-60194800	Weak transcription	Fetal Brain Male	brain
2	chr8:60179600-60187000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:60181800-60187400	Weak transcription	HMEC	breast
4	chr8:60186200-60188000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:60186200-60188000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:60186400-60188200	Enhancers	NHEK	skin

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