Variant report

Variant	rs1530288
Chromosome Location	chr8:20680983-20680984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1441794	0.83[ASN][1000 genomes]
rs1441795	0.82[ASN][1000 genomes]
rs1530287	0.96[ASN][1000 genomes]
rs2083642	0.85[ASN][1000 genomes]
rs2099830	0.87[ASN][1000 genomes]
rs2439719	0.88[ASN][1000 genomes]
rs2467527	0.83[ASN][1000 genomes]
rs2583663	0.81[ASN][1000 genomes]
rs2583664	0.83[ASN][1000 genomes]
rs2583667	0.88[ASN][1000 genomes]
rs2583668	0.87[ASN][1000 genomes]
rs2616145	0.88[ASN][1000 genomes]
rs2616146	0.88[ASN][1000 genomes]
rs2616148	0.88[ASN][1000 genomes]
rs2616149	0.89[ASN][1000 genomes]
rs2616205	0.84[ASN][1000 genomes]
rs2616207	0.87[ASN][1000 genomes]
rs2616208	0.87[ASN][1000 genomes]
rs2616210	0.88[ASN][1000 genomes]
rs2616211	0.88[ASN][1000 genomes]
rs2616212	0.88[ASN][1000 genomes]
rs920592	0.87[ASN][1000 genomes]
rs920593	0.88[ASN][1000 genomes]
rs920594	0.87[ASN][1000 genomes]
rs920595	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1033319	chr8:20606592-20718378	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv831257	chr8:20610436-20767433	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1021366	chr8:20624387-20726669	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv539525	chr8:20624387-20726669	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1020160	chr8:20652610-20825810	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv539526	chr8:20652610-20825810	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1024612	chr8:20665835-20837761	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv539527	chr8:20665835-20837761	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1530288	ADAMDEC1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20677600-20682800	Weak transcription	Fetal Brain Male	brain
2	chr8:20678000-20683000	Weak transcription	Fetal Brain Female	brain

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