Variant report

Variant	rs72917250
Chromosome Location	chr4:124990820-124990821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12506716	1.00[AMR][1000 genomes]
rs58998147	1.00[AMR][1000 genomes]
rs72915192	1.00[AMR][1000 genomes]
rs72915197	1.00[AMR][1000 genomes]
rs72917203	1.00[AMR][1000 genomes]
rs72917208	1.00[AMR][1000 genomes]
rs72917214	1.00[AMR][1000 genomes]
rs72917242	1.00[AMR][1000 genomes]
rs72917248	1.00[AMR][1000 genomes]
rs72917253	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917257	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917260	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917269	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917272	1.00[AMR][1000 genomes]
rs72917287	1.00[AMR][1000 genomes]
rs72917296	1.00[AMR][1000 genomes]
rs72919119	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1014750	chr4:124966525-125111807	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000839	chr4:124966525-125115590	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124982800-125000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

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

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