Variant report

Variant	rs72916254
Chromosome Location	chr4:118399962-118399963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10004879	1.00[AMR][1000 genomes]
rs10015961	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17865155	1.00[AMR][1000 genomes]
rs17865228	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17866004	1.00[AMR][1000 genomes]
rs17866869	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17866976	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17869387	1.00[AMR][1000 genomes]
rs17869771	1.00[AMR][1000 genomes]
rs28513507	1.00[AMR][1000 genomes]
rs28690437	1.00[AMR][1000 genomes]
rs7666064	1.00[AMR][1000 genomes]
rs7681166	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	nsv427692	chr4:118262899-118437573	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv482430	chr4:118347180-118497181	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3446523	chr4:118399604-118401702	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118388000-118400800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:118396600-118402800	Weak transcription	HMEC	breast
3	chr4:118399400-118401200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:118399800-118400000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:118399800-118402200	Weak transcription	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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