Variant report

Variant	rs6997997
Chromosome Location	chr8:10766082-10766083
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:30)

rs_ID	r²[population]
rs10107145	0.82[CEU][hapmap];0.86[AMR][1000 genomes]
rs11250086	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11250094	0.80[CEU][hapmap]
rs11776011	0.87[ASN][1000 genomes]
rs11784061	0.87[ASN][1000 genomes]
rs11784331	0.87[ASN][1000 genomes]
rs12548184	0.81[EUR][1000 genomes]
rs13248287	0.87[ASN][1000 genomes]
rs13270870	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279307	0.87[ASN][1000 genomes]
rs13279922	0.87[ASN][1000 genomes]
rs1529598	0.87[ASN][1000 genomes]
rs17778581	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34741518	0.80[AMR][1000 genomes]
rs4240671	0.96[CEU][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240672	0.93[CEU][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4326350	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554431	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4840525	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57145255	0.87[ASN][1000 genomes]
rs6985109	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6997839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015168	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7813037	0.87[ASN][1000 genomes]
rs7821826	0.93[CEU][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834121	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7834248	0.87[EUR][1000 genomes]
rs7837038	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs7843470	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs7843666	0.92[AMR][1000 genomes];0.93[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	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6997997	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10762400-10778800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:10763600-10767000	Weak transcription	Fetal Brain Male	brain
3	chr8:10765800-10766200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:10765800-10766800	Weak transcription	GM12878-XiMat	blood
5	chr8:10765800-10770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10765800-10778400	Weak transcription	Pancreas	Pancrea

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