Variant report

Variant	rs285819
Chromosome Location	chr8:106104615-106104616
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:106098062..106099625-chr8:106102482..106104994,2	MCF-7	breast:
2	chr8:105800104..105800636-chr8:106104255..106105140,2	MCF-7	breast:
3	chr8:106104141..106105251-chr8:106729947..106730923,5	MCF-7	breast:
4	chr8:106104219..106105278-chr8:106672513..106673764,5	MCF-7	breast:
5	chr8:106103633..106105530-chr8:106328930..106331673,2	K562	blood:
6	chr8:106104293..106104911-chr8:106785023..106785634,3	MCF-7	breast:
7	chr8:106101009..106105530-chr8:106328930..106333222,5	K562	blood:

Variant related genes	Relation type
ENSG00000169946	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs176236	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2045672	0.91[ASN][1000 genomes]
rs2685537	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs285796	0.82[EUR][1000 genomes]
rs285798	0.82[EUR][1000 genomes]
rs285814	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs285816	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs285820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285824	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs285825	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs285826	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs285827	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs285828	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs285829	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs285833	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs285834	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs285835	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs285837	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs285838	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs285840	0.81[CEU][hapmap]
rs285842	0.81[CEU][hapmap]
rs285843	0.81[CEU][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap]
rs285845	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs2926696	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs627350	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	esv2762763	chr8:105943295-106218634	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891253	chr8:105994885-106251476	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891254	chr8:106060970-106175867	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs285819	ZNF706	cis	cerebellum	SCAN
rs285819	NACAP1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106102200-106105000	Enhancers	Fetal Brain Male	brain
2	chr8:106103000-106105000	Weak transcription	K562	blood
3	chr8:106103000-106105200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:106104000-106105000	Weak transcription	Fetal Lung	lung
5	chr8:106104200-106105200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:106104600-106104800	Enhancers	Brain Germinal Matrix	brain
7	chr8:106104600-106105200	Enhancers	HUVEC	blood vessel
8	chr8:106104600-106105400	Enhancers	Right Atrium	heart

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