Variant report

Variant	rs11925020
Chromosome Location	chr3:69446383-69446384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11128124	1.00[AMR][1000 genomes]
rs11920822	1.00[AMR][1000 genomes]
rs11928545	0.83[AFR][1000 genomes]
rs1483894	1.00[AMR][1000 genomes]
rs1809486	1.00[AMR][1000 genomes]
rs1843047	1.00[AMR][1000 genomes]
rs2007561	1.00[AMR][1000 genomes]
rs2128973	1.00[AMR][1000 genomes]
rs2314988	1.00[AMR][1000 genomes]
rs34772648	1.00[AMR][1000 genomes]
rs4855306	1.00[AMR][1000 genomes]
rs4855392	1.00[AMR][1000 genomes]
rs4855393	1.00[AMR][1000 genomes]
rs6549199	1.00[AMR][1000 genomes]
rs6549212	1.00[AMR][1000 genomes]
rs6769290	1.00[AMR][1000 genomes]
rs6783290	1.00[AMR][1000 genomes]
rs6794191	1.00[AMR][1000 genomes]
rs72937850	1.00[AMR][1000 genomes]
rs7645568	1.00[AMR][1000 genomes]
rs7649640	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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2760780	chr3:69413876-69513947	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69439000-69449600	Weak transcription	Fetal Lung	lung
2	chr3:69440000-69453800	Weak transcription	HMEC	breast
3	chr3:69441800-69450000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:69442400-69446600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:69442400-69447800	Weak transcription	Brain Substantia Nigra	brain
6	chr3:69443600-69447600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:69443800-69446600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:69446200-69446600	ZNF genes & repeats	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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