Variant report

Variant	rs7643519
Chromosome Location	chr3:180194687-180194688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12106782	1.00[AMR][1000 genomes]
rs1391318	1.00[AMR][1000 genomes]
rs1497894	1.00[AMR][1000 genomes]
rs16831600	0.89[AFR][1000 genomes]
rs16831605	0.89[AFR][1000 genomes]
rs16831609	0.89[AFR][1000 genomes]
rs16831612	0.92[AFR][1000 genomes]
rs16831616	0.92[AFR][1000 genomes]
rs16831618	0.92[AFR][1000 genomes]
rs16831627	1.00[AMR][1000 genomes]
rs16831662	0.90[AFR][1000 genomes]
rs16831689	1.00[AMR][1000 genomes]
rs4431109	1.00[AMR][1000 genomes]
rs57744331	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59951082	0.96[AFR][1000 genomes]
rs60339377	0.83[AMR][1000 genomes]
rs6443697	1.00[AMR][1000 genomes]
rs6767567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6785627	1.00[AMR][1000 genomes]
rs6793428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6802873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6803180	1.00[AMR][1000 genomes]
rs6803379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6805364	1.00[AMR][1000 genomes]
rs73043710	0.89[AFR][1000 genomes]
rs73043790	0.96[AFR][1000 genomes]
rs73043794	0.96[AFR][1000 genomes]
rs73043796	0.96[AFR][1000 genomes]
rs73045707	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73045718	1.00[AMR][1000 genomes]
rs73045724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73045725	1.00[AMR][1000 genomes]
rs73045755	1.00[AMR][1000 genomes]
rs73045765	1.00[AMR][1000 genomes]
rs73045768	1.00[AMR][1000 genomes]
rs73045770	1.00[AMR][1000 genomes]
rs73045772	1.00[AMR][1000 genomes]
rs73045783	1.00[AMR][1000 genomes]
rs7626867	1.00[AMR][1000 genomes]
rs7650531	1.00[AMR][1000 genomes]
rs7650731	1.00[AMR][1000 genomes]
rs954850	1.00[AMR][1000 genomes]
rs9757646	0.83[AMR][1000 genomes]
rs9784391	1.00[AMR][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	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1007831	chr3:180162003-180348203	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536818	chr3:180162003-180348203	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:180187400-180205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:180187600-180198800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:180193800-180194800	Strong transcription	HMEC	breast

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