Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10456174	0.93[TSI][hapmap]
rs10456681	0.92[TSI][hapmap]
rs10456682	0.80[AMR][1000 genomes]
rs10456683	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456684	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498797	1.00[CHD][hapmap];0.93[TSI][hapmap]
rs10948812	0.83[CEU][hapmap]
rs10948813	0.92[TSI][hapmap]
rs10948814	0.93[TSI][hapmap]
rs10948817	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189890	0.80[AMR][1000 genomes]
rs12192520	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193891	0.93[TSI][hapmap]
rs12204930	0.80[AMR][1000 genomes]
rs12210322	0.80[AMR][1000 genomes]
rs12213596	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661397	0.93[TSI][hapmap]
rs12663327	1.00[CHD][hapmap];0.93[TSI][hapmap]
rs12664425	0.80[AMR][1000 genomes]
rs2063238	0.80[AMR][1000 genomes]
rs59459598	0.80[AMR][1000 genomes]
rs59508393	0.80[AMR][1000 genomes]
rs7750024	0.80[AMR][1000 genomes]
rs9283920	0.80[CEU][hapmap]
rs9382326	0.93[TSI][hapmap]
rs9395943	0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1508632	PAQR8	cis	cerebellum	SCAN
rs1508632	GCLC	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54283600-54285400	Enhancers	HUVEC	blood vessel
2	chr6:54284200-54285400	Enhancers	NHDF-Ad	bronchial
3	chr6:54284200-54285400	Enhancers	NHEK	skin
4	chr6:54284200-54285600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:54284400-54284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:54284400-54284800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:54284400-54284800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:54284400-54284800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:54284400-54284800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:54284400-54284800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:54284400-54284800	Flanking Active TSS	HMEC	breast
12	chr6:54284400-54284800	Enhancers	HSMM	muscle
13	chr6:54284400-54284800	Enhancers	NHLF	lung
14	chr6:54284400-54285000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:54284400-54285200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:54284400-54285200	Enhancers	Hela-S3	cervix
17	chr6:54284400-54285400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:54284400-54285400	Enhancers	NH-A	brain
19	chr6:54284400-54285400	Enhancers	Osteobl	bone

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