Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10498547	0.87[ASN][1000 genomes]
rs11159470	0.95[ASN][1000 genomes]
rs11159471	0.87[ASN][1000 genomes]
rs12161870	0.81[ASN][1000 genomes]
rs12589019	0.90[ASN][1000 genomes]
rs12589109	0.95[ASN][1000 genomes]
rs17519	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1871458	1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs34201956	0.90[ASN][1000 genomes]
rs4903927	0.90[ASN][1000 genomes]
rs4903930	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4903931	0.83[ASN][1000 genomes]
rs6574592	0.92[ASN][1000 genomes]
rs66523962	0.93[ASN][1000 genomes]
rs7141390	0.90[ASN][1000 genomes]
rs71430713	0.85[ASN][1000 genomes]
rs7144036	0.91[ASN][1000 genomes]
rs7145447	0.86[CHB][hapmap];0.84[CHD][hapmap];0.80[ASN][1000 genomes]
rs7152126	0.96[ASN][1000 genomes]
rs7156452	0.89[ASN][1000 genomes]
rs7158869	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7159302	0.95[ASN][1000 genomes]
rs8003492	0.84[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8007426	0.87[GIH][hapmap]
rs8007955	0.90[ASN][1000 genomes]
rs8013202	0.88[ASN][1000 genomes]
rs8013610	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018031	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7142417	POMT2	cis	cerebellum	SCAN
rs7142417	C14orf145	cis	parietal	SCAN
rs7142417	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81083400-81109400	Weak transcription	Dnd41	blood
2	chr14:81087400-81104200	Weak transcription	HSMM	muscle
3	chr14:81088600-81094200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:81088600-81099400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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