Variant report

Variant	rs7527083
Chromosome Location	chr1:71780514-71780515
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10889915	1.00[EUR][1000 genomes]
rs1354730	1.00[EUR][1000 genomes]
rs1506450	1.00[EUR][1000 genomes]
rs1517763	1.00[EUR][1000 genomes]
rs17090812	1.00[EUR][1000 genomes]
rs2790678	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2790679	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650108	1.00[EUR][1000 genomes]
rs4650110	1.00[EUR][1000 genomes]
rs56351207	1.00[AMR][1000 genomes]
rs57083913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58917466	1.00[AMR][1000 genomes]
rs61421461	1.00[EUR][1000 genomes]
rs74087217	1.00[AMR][1000 genomes]
rs74087219	1.00[AMR][1000 genomes]
rs74087220	1.00[AMR][1000 genomes]
rs74087224	1.00[AMR][1000 genomes]
rs74090254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090271	1.00[AMR][1000 genomes]
rs74090283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090908	1.00[AMR][1000 genomes]
rs7537247	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1005726	chr1:71701840-71953242	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1848377	chr1:71718838-71964514	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv531880	chr1:71724941-71964501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv830159	chr1:71772308-71909860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv916508	chr1:71777392-72046388	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:71770600-71781200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:71778800-71781200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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