Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11628915	1.00[ASW][hapmap];0.88[CEU][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12881435	1.00[ASW][hapmap];0.87[CEU][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2049826	0.85[CHB][hapmap]
rs2091925	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs2091926	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs2293832	0.86[CHB][hapmap];0.87[CHD][hapmap];0.90[ASN][1000 genomes]
rs2293833	0.80[ASN][1000 genomes]
rs2293834	0.85[ASN][1000 genomes]
rs2293836	0.85[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap]
rs35224540	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35732569	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4522356	0.85[CHB][hapmap]
rs56122467	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67488951	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7143634	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7148719	0.85[CHB][hapmap]
rs7152915	0.82[CEU][hapmap]
rs7155646	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs760288	0.85[CHB][hapmap]
rs9888579	0.85[CHB][hapmap]
rs9888612	0.85[CHB][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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17764884	POMT2	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80302600-80307600	Weak transcription	Brain Substantia Nigra	brain
2	chr14:80303200-80308000	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:80303200-80308400	Weak transcription	NH-A	brain
4	chr14:80303400-80306200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:80303400-80306400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:80303400-80308200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:80303400-80308400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:80303400-80308400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:80303400-80308400	Weak transcription	Osteobl	bone
10	chr14:80303800-80304800	Enhancers	Liver	Liver

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