Variant report

Variant	rs984878
Chromosome Location	chr8:69551547-69551548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11984995	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs11989629	1.00[CEU][hapmap]
rs11989752	1.00[CEU][hapmap]
rs11992298	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs11993217	1.00[CEU][hapmap]
rs11993687	1.00[CEU][hapmap]
rs11997399	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934738	0.85[CEU][hapmap]
rs16934792	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934878	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs16934892	1.00[CEU][hapmap]
rs16934901	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs16934903	1.00[CEU][hapmap]
rs16934930	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs16934945	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs16934954	1.00[CEU][hapmap]
rs17388090	1.00[CEU][hapmap]
rs2263129	0.82[CEU][hapmap]
rs2591008	0.82[CEU][hapmap]
rs2676638	0.82[CEU][hapmap]
rs55691147	0.87[EUR][1000 genomes]
rs55718353	0.87[EUR][1000 genomes]
rs55731817	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55820094	0.87[EUR][1000 genomes]
rs55821789	0.83[AMR][1000 genomes]
rs55851115	0.87[EUR][1000 genomes]
rs56194107	0.84[EUR][1000 genomes]
rs56405329	0.87[EUR][1000 genomes]
rs57624575	0.92[EUR][1000 genomes]
rs58619671	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60577322	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60704896	0.87[EUR][1000 genomes]
rs60946548	0.87[EUR][1000 genomes]
rs6651316	1.00[CEU][hapmap]
rs6986385	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs6987972	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs6992870	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7012051	1.00[CEU][hapmap];0.90[GIH][hapmap];0.87[EUR][1000 genomes]
rs7013783	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs7014834	1.00[CEU][hapmap]
rs7015275	1.00[CEU][hapmap]
rs73683589	0.87[EUR][1000 genomes]
rs73683594	0.87[EUR][1000 genomes]
rs73683595	0.87[EUR][1000 genomes]
rs73683703	0.87[EUR][1000 genomes]
rs7818791	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818845	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs984415	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987198	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890984	chr8:69482825-69556111	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv890985	chr8:69532253-69586034	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs984878	MSL3	trans	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69545200-69572800	Weak transcription	Aorta	Aorta
2	chr8:69548800-69552200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:69549800-69552800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:69550200-69551800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:69550600-69552800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:69551400-69552800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:69551400-69555000	Weak transcription	HSMMtube	muscle

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