Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1036670	0.87[ASN][1000 genomes]
rs10929781	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11675063	0.87[ASN][1000 genomes]
rs12471493	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12692452	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12987412	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13002231	0.99[EUR][1000 genomes]
rs1550395	0.98[EUR][1000 genomes]
rs1550396	0.99[EUR][1000 genomes]
rs2165219	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2165220	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2380405	0.96[ASN][1000 genomes]
rs6432249	0.96[ASN][1000 genomes]
rs6432250	0.96[ASN][1000 genomes]
rs6744092	0.91[ASN][1000 genomes]
rs751578	0.87[ASN][1000 genomes]
rs751579	0.87[ASN][1000 genomes]
rs7560369	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7566729	0.87[ASN][1000 genomes]
rs7584343	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7584367	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7585074	0.98[EUR][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13007105	KLK12	trans	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12155000-12164000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:12157800-12163000	ZNF genes & repeats	GM12878-XiMat	blood
3	chr2:12160400-12161600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr2:12160400-12161600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:12160600-12161800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr2:12160800-12161600	ZNF genes & repeats	Fetal Lung	lung
7	chr2:12160800-12162600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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