Variant report

Variant	rs7008687
Chromosome Location	chr8:110376861-110376862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110375572..110377365-chr8:110452939..110455019,2	MCF-7	breast:
2	chr8:110376237..110378577-chr8:110400092..110402254,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10093885	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100944	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108704	1.00[ASN][1000 genomes]
rs11550169	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11778756	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784792	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785973	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438836	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563581	0.83[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17368044	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375750	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs17445342	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17446406	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892761	0.81[EUR][1000 genomes]
rs28463252	1.00[ASN][1000 genomes]
rs28491535	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800074	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959787	0.81[EUR][1000 genomes]
rs56109503	0.84[EUR][1000 genomes]
rs56379526	0.84[EUR][1000 genomes]
rs59237049	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60189528	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61467163	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6469255	1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469264	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs6982826	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6995033	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs6999170	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669109	0.84[EUR][1000 genomes]
rs72669111	0.84[EUR][1000 genomes]
rs72669122	0.82[EUR][1000 genomes]
rs72669124	0.82[EUR][1000 genomes]
rs72669127	0.82[EUR][1000 genomes]
rs72669129	0.81[EUR][1000 genomes]
rs72669131	0.81[EUR][1000 genomes]
rs72682697	1.00[ASN][1000 genomes]
rs72684719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684799	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687010	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687015	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816624	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817639	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818929	1.00[ASN][1000 genomes]
rs7820734	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835131	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836433	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842842	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs9656791	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656881	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3324923	chr8:110370872-110377960	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7008687	EBAG9	cis	parietal	SCAN
rs7008687	ANGPT1	cis	parietal	SCAN
rs7008687	Hs.171169	cis	multi-tissue	Pritchard
rs7008687	PKHD1L1	cis	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110375000-110379800	Weak transcription	Gastric	stomach
2	chr8:110375200-110380000	Weak transcription	HUVEC	blood vessel
3	chr8:110375200-110381400	Weak transcription	Pancreas	Pancrea
4	chr8:110375600-110377000	Enhancers	K562	blood

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