Variant report

Variant	rs73322626
Chromosome Location	chr12:67732281-67732282
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11176719	0.80[AFR][1000 genomes]
rs11176722	0.80[AFR][1000 genomes]
rs17249055	0.80[AFR][1000 genomes]
rs4264226	1.00[AMR][1000 genomes]
rs7308438	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73318862	1.00[AMR][1000 genomes]
rs73320722	1.00[AMR][1000 genomes]
rs73320740	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73320773	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322624	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73322688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324544	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324548	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324553	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324554	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324565	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73326424	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv756	chr12:67703587-67744743	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3347247	chr12:67728199-67733930	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
5	esv3497208	chr12:67728242-67733910	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
6	esv3497219	chr12:67728242-67733910	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
7	esv16869	chr12:67728435-67733753	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67716600-67748000	Weak transcription	HSMM	muscle
2	chr12:67728400-67748000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:67731400-67733600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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