Variant report

Variant	rs11050475
Chromosome Location	chr12:29994675-29994676
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10843526	0.89[AFR][1000 genomes]
rs11050472	0.95[AFR][1000 genomes]
rs11050473	1.00[AFR][1000 genomes]
rs11050474	1.00[AFR][1000 genomes]
rs11050476	1.00[AFR][1000 genomes]
rs11050477	1.00[AFR][1000 genomes]
rs11050478	1.00[AFR][1000 genomes]
rs11050480	1.00[AFR][1000 genomes]
rs11050481	1.00[AFR][1000 genomes]
rs11050484	1.00[AFR][1000 genomes]
rs11050485	1.00[AFR][1000 genomes]
rs11050486	1.00[AFR][1000 genomes]
rs11050487	1.00[AFR][1000 genomes]
rs11050488	0.95[AFR][1000 genomes]
rs11050489	0.95[AFR][1000 genomes]
rs11050491	1.00[AFR][1000 genomes]
rs11050492	1.00[AFR][1000 genomes]
rs11050493	1.00[AFR][1000 genomes]
rs11050494	1.00[AFR][1000 genomes]
rs11050498	0.89[AFR][1000 genomes]
rs11050499	0.89[AFR][1000 genomes]
rs11050500	0.89[AFR][1000 genomes]
rs11050501	0.89[AFR][1000 genomes]
rs11050502	0.89[AFR][1000 genomes]
rs11050503	0.89[AFR][1000 genomes]
rs11050504	0.89[AFR][1000 genomes]
rs11050505	0.89[AFR][1000 genomes]
rs11050507	0.80[AFR][1000 genomes]
rs12298049	1.00[AFR][1000 genomes]
rs12300211	1.00[AFR][1000 genomes]
rs12301279	0.89[AFR][1000 genomes]
rs12304166	1.00[AFR][1000 genomes]
rs12304207	1.00[AFR][1000 genomes]
rs12304335	1.00[AFR][1000 genomes]
rs12306775	0.89[AFR][1000 genomes]
rs12307862	1.00[AFR][1000 genomes]
rs12313116	0.89[AFR][1000 genomes]
rs12314833	0.80[AFR][1000 genomes]
rs12315210	0.89[AFR][1000 genomes]
rs12315352	0.89[AFR][1000 genomes]
rs12315716	1.00[AFR][1000 genomes]
rs12317098	1.00[AFR][1000 genomes]
rs12317105	0.82[AFR][1000 genomes]
rs12317199	1.00[AFR][1000 genomes]
rs12317899	1.00[AFR][1000 genomes]
rs12318071	1.00[AFR][1000 genomes]
rs12318077	1.00[AFR][1000 genomes]
rs12320006	1.00[AFR][1000 genomes]
rs12320007	1.00[AFR][1000 genomes]
rs12321517	1.00[AFR][1000 genomes]
rs12321611	1.00[AFR][1000 genomes]
rs13313229	1.00[AFR][1000 genomes]
rs13313230	1.00[AFR][1000 genomes]
rs13313236	1.00[AFR][1000 genomes]
rs1438510	1.00[AFR][1000 genomes]
rs1438511	1.00[AFR][1000 genomes]
rs1599733	0.89[AFR][1000 genomes]
rs2101263	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29991600-29997600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29994000-29996600	Enhancers	Fetal Brain Male	brain
3	chr12:29994200-29995000	Weak transcription	Fetal Lung	lung

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