Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10060222	0.92[EUR][1000 genomes]
rs10073671	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10478816	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11241966	0.83[AMR][1000 genomes]
rs13185878	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1363467	0.92[EUR][1000 genomes]
rs1363470	0.92[EUR][1000 genomes]
rs3935200	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4240408	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4277962	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4331947	0.83[AMR][1000 genomes]
rs4415123	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4836381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55670004	0.83[AMR][1000 genomes]
rs60454446	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6595839	0.81[AMR][1000 genomes]
rs6859278	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6860901	0.81[CEU][hapmap]
rs6865322	0.90[CEU][hapmap];0.85[LWK][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes]
rs6878310	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6890614	0.82[AMR][1000 genomes]
rs6897794	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9327479	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]

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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6595843	FBN2	cis	lung	GTEx
rs6595843	FBN2	cis	multi-tissue	Pritchard
rs6595843	FBN2	cis	Thyroid	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127910200-127914400	Weak transcription	NH-A	brain
2	chr5:127910600-127915400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:127913400-127914400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:127913800-127915800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:127914000-127914600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:127914000-127914800	Enhancers	Placenta	Placenta
7	chr5:127914000-127915200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:127914000-127915600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:127914000-127915800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:127914000-127916000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:127914000-127916000	Enhancers	HMEC	breast
12	chr5:127914000-127916000	Enhancers	NHEK	skin
13	chr5:127914200-127914400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:127914200-127914400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr5:127914200-127914800	Flanking Active TSS	Hela-S3	cervix
16	chr5:127914200-127915600	Flanking Active TSS	A549	lung

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