Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10843534	0.82[EUR][1000 genomes]
rs10843545	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050518	0.83[EUR][1000 genomes]
rs11050519	0.82[EUR][1000 genomes]
rs11050525	0.82[EUR][1000 genomes]
rs11050526	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050528	0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050536	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050537	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050538	0.84[EUR][1000 genomes]
rs11050547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578411	0.92[ASN][1000 genomes]
rs12809939	0.84[EUR][1000 genomes]
rs12811388	0.82[EUR][1000 genomes]
rs12812577	0.80[EUR][1000 genomes]
rs12813417	0.82[EUR][1000 genomes]
rs12821024	0.84[EUR][1000 genomes]
rs12821746	0.82[EUR][1000 genomes]
rs12826590	0.84[EUR][1000 genomes]
rs12828727	0.93[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1466545	0.83[EUR][1000 genomes]
rs7132449	0.80[EUR][1000 genomes]
rs7136398	0.82[EUR][1000 genomes]
rs73073130	0.87[ASN][1000 genomes]
rs7979574	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv526146	chr12:29989292-30112823	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30073600-30074800	Enhancers	Fetal Heart	heart
2	chr12:30073600-30075000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:30073800-30074800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:30073800-30074800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:30073800-30074800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:30073800-30074800	Enhancers	Hela-S3	cervix
7	chr12:30073800-30074800	Enhancers	HMEC	breast
8	chr12:30073800-30075000	Enhancers	HUVEC	blood vessel
9	chr12:30074000-30074600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:30074000-30074800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:30074000-30074800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:30074000-30074800	Enhancers	NHEK	skin
13	chr12:30074200-30074600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:30074200-30074600	Enhancers	NH-A	brain
15	chr12:30074200-30074800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:30074400-30074800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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