Variant report

Variant	rs11050500
Chromosome Location	chr12:30011803-30011804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10843526	1.00[AFR][1000 genomes]
rs11050472	0.85[AFR][1000 genomes]
rs11050473	0.89[AFR][1000 genomes]
rs11050474	0.89[AFR][1000 genomes]
rs11050475	0.89[AFR][1000 genomes]
rs11050476	0.89[AFR][1000 genomes]
rs11050477	0.89[AFR][1000 genomes]
rs11050478	0.89[AFR][1000 genomes]
rs11050480	0.89[AFR][1000 genomes]
rs11050481	0.89[AFR][1000 genomes]
rs11050484	0.89[AFR][1000 genomes]
rs11050485	0.89[AFR][1000 genomes]
rs11050486	0.89[AFR][1000 genomes]
rs11050487	0.89[AFR][1000 genomes]
rs11050488	0.84[AFR][1000 genomes]
rs11050489	0.84[AFR][1000 genomes]
rs11050491	0.89[AFR][1000 genomes]
rs11050492	0.89[AFR][1000 genomes]
rs11050493	0.89[AFR][1000 genomes]
rs11050494	0.89[AFR][1000 genomes]
rs11050498	1.00[AFR][1000 genomes]
rs11050499	1.00[AFR][1000 genomes]
rs11050501	1.00[AFR][1000 genomes]
rs11050502	1.00[AFR][1000 genomes]
rs11050503	1.00[AFR][1000 genomes]
rs11050504	1.00[AFR][1000 genomes]
rs11050505	1.00[AFR][1000 genomes]
rs11050507	0.90[AFR][1000 genomes]
rs12298049	0.89[AFR][1000 genomes]
rs12300211	0.89[AFR][1000 genomes]
rs12301279	1.00[AFR][1000 genomes]
rs12304166	0.89[AFR][1000 genomes]
rs12304207	0.89[AFR][1000 genomes]
rs12304335	0.89[AFR][1000 genomes]
rs12306775	1.00[AFR][1000 genomes]
rs12307862	0.89[AFR][1000 genomes]
rs12313116	1.00[AFR][1000 genomes]
rs12314833	0.90[AFR][1000 genomes]
rs12315210	1.00[AFR][1000 genomes]
rs12315352	1.00[AFR][1000 genomes]
rs12315716	0.89[AFR][1000 genomes]
rs12317098	0.89[AFR][1000 genomes]
rs12317199	0.89[AFR][1000 genomes]
rs12317899	0.89[AFR][1000 genomes]
rs12318071	0.89[AFR][1000 genomes]
rs12318077	0.89[AFR][1000 genomes]
rs12320006	0.89[AFR][1000 genomes]
rs12320007	0.89[AFR][1000 genomes]
rs12321517	0.89[AFR][1000 genomes]
rs12321611	0.89[AFR][1000 genomes]
rs13313229	0.89[AFR][1000 genomes]
rs13313230	0.89[AFR][1000 genomes]
rs13313236	0.89[AFR][1000 genomes]
rs1438510	0.89[AFR][1000 genomes]
rs1438511	0.89[AFR][1000 genomes]
rs1599733	1.00[AFR][1000 genomes]
rs2101263	0.90[AFR][1000 genomes]
rs73071616	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv557975	chr12:30000388-30022105	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30008400-30014400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:30011200-30012000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:30011200-30012000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:30011400-30012000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:30011400-30012800	Enhancers	HMEC	breast

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