Variant report

Variant	rs72886514
Chromosome Location	chr1:47248846-47248847
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1258062	1.00[AMR][1000 genomes]
rs17102443	1.00[AMR][1000 genomes]
rs17102459	1.00[AMR][1000 genomes]
rs2984805	1.00[AMR][1000 genomes]
rs58568840	1.00[AMR][1000 genomes]
rs599869	1.00[AMR][1000 genomes]
rs635972	1.00[AMR][1000 genomes]
rs644675	1.00[AMR][1000 genomes]
rs654509	1.00[AMR][1000 genomes]
rs659308	1.00[AMR][1000 genomes]
rs682000	1.00[AMR][1000 genomes]
rs72886508	1.00[AMR][1000 genomes]
rs72886510	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898800	1.00[AMR][1000 genomes]
rs72900717	1.00[AMR][1000 genomes]
rs72900729	1.00[AMR][1000 genomes]
rs72900756	1.00[AMR][1000 genomes]
rs72900763	1.00[AMR][1000 genomes]
rs72900764	1.00[AMR][1000 genomes]
rs72900776	1.00[AMR][1000 genomes]
rs7544284	1.00[AMR][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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv947486	chr1:47223941-47255551	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47247600-47249000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:47248800-47250000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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