Variant report

Variant	rs12678634
Chromosome Location	chr8:60157319-60157320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10091892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095970	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10099943	0.82[AMR][1000 genomes]
rs10100411	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103583	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10104633	0.82[AMR][1000 genomes]
rs10105498	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10110151	1.00[ASN][1000 genomes]
rs10112807	0.82[AMR][1000 genomes]
rs10113240	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11780357	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12547193	0.82[AMR][1000 genomes]
rs12547861	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12674861	0.82[AMR][1000 genomes]
rs13438889	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16924763	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28409996	0.94[AMR][1000 genomes]
rs28433486	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28433589	0.94[AMR][1000 genomes]
rs28502676	0.94[AMR][1000 genomes]
rs28576714	1.00[ASN][1000 genomes]
rs28626080	1.00[ASN][1000 genomes]
rs28670669	0.86[AMR][1000 genomes]
rs5013650	0.82[AMR][1000 genomes]
rs57168034	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471770	0.86[AMR][1000 genomes]
rs6471771	0.86[AMR][1000 genomes]
rs6471772	0.86[AMR][1000 genomes]
rs6996674	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7000999	0.82[AMR][1000 genomes]
rs7001259	0.84[EUR][1000 genomes]
rs7822365	0.86[AMR][1000 genomes]
rs7832433	0.81[EUR][1000 genomes]
rs9298010	0.82[AMR][1000 genomes]
rs9657027	0.82[AMR][1000 genomes]
rs9886422	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9886425	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[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	nsv831327	chr8:60008412-60159152	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60155600-60160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:60155600-60160200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:60155800-60157400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:60155800-60160600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:60156800-60158000	Enhancers	NHEK	skin

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