Variant report

Variant	rs28520716
Chromosome Location	chr4:130306566-130306567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10008055	0.86[EUR][1000 genomes]
rs10014575	0.84[EUR][1000 genomes]
rs10019652	0.84[EUR][1000 genomes]
rs12331187	0.84[EUR][1000 genomes]
rs28447522	0.84[EUR][1000 genomes]
rs28538693	0.84[EUR][1000 genomes]
rs28663651	0.84[EUR][1000 genomes]
rs55888429	0.83[EUR][1000 genomes]
rs6846660	0.81[EUR][1000 genomes]
rs72688763	0.84[EUR][1000 genomes]
rs7666269	0.84[EUR][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	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv830058	chr4:130136025-130315471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130305800-130306800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:130305800-130306800	Enhancers	HMEC	breast
3	chr4:130306000-130306600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:130306000-130306800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:130306000-130306800	Enhancers	NHEK	skin

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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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