Variant report

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

rs_ID	r²[population]
rs11162433	0.93[CEU][hapmap]
rs11162435	0.89[ASN][1000 genomes]
rs11162436	0.89[ASN][1000 genomes]
rs1323097	0.89[ASN][1000 genomes]
rs1323099	0.86[ASN][1000 genomes]
rs1745624	0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2181453	0.86[ASN][1000 genomes]
rs2351912	0.87[ASN][1000 genomes]
rs4650639	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs585677	0.83[ASN][1000 genomes]
rs589683	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591206	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs614836	0.86[CEU][hapmap];0.87[JPT][hapmap]
rs637650	0.89[ASN][1000 genomes]
rs646971	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs648315	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs661630	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6665090	0.93[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs666897	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs679843	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs681907	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs720579	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942100	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7540033	NEXN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78702800-78706000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:78702800-78706200	Weak transcription	Osteobl	bone
3	chr1:78702800-78706400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:78703000-78706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:78703000-78706600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:78703400-78706000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:78703400-78706200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:78704000-78706400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:78704000-78706400	Weak transcription	Pancreas	Pancrea

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