Variant report

Variant	rs28522396
Chromosome Location	chr4:129366674-129366675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11940440	1.00[AMR][1000 genomes]
rs11942008	1.00[AMR][1000 genomes]
rs11942823	1.00[AMR][1000 genomes]
rs11944086	1.00[AMR][1000 genomes]
rs11947006	1.00[AMR][1000 genomes]
rs17013071	1.00[AMR][1000 genomes]
rs28633478	1.00[AFR][1000 genomes]
rs34883691	1.00[AMR][1000 genomes]
rs56095603	1.00[AMR][1000 genomes]
rs56317429	1.00[AMR][1000 genomes]
rs59874564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850310	1.00[AMR][1000 genomes]
rs73850312	1.00[AMR][1000 genomes]
rs73850313	1.00[AMR][1000 genomes]
rs73850314	1.00[AMR][1000 genomes]
rs73850315	1.00[AMR][1000 genomes]
rs73850318	1.00[AMR][1000 genomes]
rs73850321	0.92[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv275440	chr4:129362619-129369873	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 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	chr4:129362600-129367000	Weak transcription	Pancreas	Pancrea
2	chr4:129362600-129368600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:129363200-129372400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:129365200-129366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:129366000-129367000	Enhancers	A549	lung

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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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