Variant report

Variant	rs7548474
Chromosome Location	chr1:172969805-172969806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10912515	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064861	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080209	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081546	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12083030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090211	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2206376	0.81[AFR][1000 genomes]
rs2901695	0.91[AFR][1000 genomes]
rs59117740	1.00[AMR][1000 genomes]
rs61449314	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6691232	0.82[AFR][1000 genomes]
rs7552799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:172960600-172974000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:172968200-172973600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:172968800-172972000	Weak transcription	HMEC	breast

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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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