Variant report

Variant	rs7826497
Chromosome Location	chr8:105724069-105724070
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105722755..105724604-chr8:105724711..105727593,2	K562	blood:
2	chr8:105719997..105724604-chr8:105724628..105730087,7	K562	blood:
3	chr8:105723577..105726561-chr8:105730887..105734865,3	K562	blood:
4	chr8:105723321..105726561-chr8:105732174..105734865,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1000420	0.83[CHB][hapmap]
rs1000421	0.83[CHB][hapmap]
rs10088230	0.85[ASN][1000 genomes]
rs10101130	0.85[ASN][1000 genomes]
rs10102865	0.83[CHB][hapmap]
rs10103495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505064	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10955358	0.89[ASN][1000 genomes]
rs11783360	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12542435	0.81[CHB][hapmap]
rs13250808	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13261792	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271748	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1370797	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438343	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1442497	0.91[ASN][1000 genomes]
rs1992211	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992214	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2118603	0.83[CHB][hapmap]
rs28548678	0.92[ASN][1000 genomes]
rs3847142	0.92[ASN][1000 genomes]
rs3847143	0.83[CHB][hapmap]
rs3847144	0.92[ASN][1000 genomes]
rs3910535	0.87[ASN][1000 genomes]
rs3964290	0.85[ASN][1000 genomes]
rs4039605	0.82[ASN][1000 genomes]
rs4294157	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734809	0.91[ASN][1000 genomes]
rs4734810	0.83[CHB][hapmap]
rs4734811	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.92[ASN][1000 genomes]
rs4734812	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4734817	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs6983576	0.92[ASN][1000 genomes]
rs6984657	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6985113	0.84[ASN][1000 genomes]
rs6994484	0.91[ASN][1000 genomes]
rs7014956	0.91[ASN][1000 genomes]
rs725403	0.91[ASN][1000 genomes]
rs7845583	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7826497	LRP12	cis	cerebellum	SCAN
rs7826497	ABRA	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105718600-105724400	Weak transcription	HMEC	breast
2	chr8:105719800-105724400	Weak transcription	NHEK	skin
3	chr8:105724000-105725800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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