Variant report

Variant	rs72909330
Chromosome Location	chr2:190917075-190917076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10804031	0.89[ASN][1000 genomes]
rs11681628	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13401889	0.81[EUR][1000 genomes]
rs3791783	0.80[EUR][1000 genomes]
rs57566211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72909328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570532	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190916200-190918400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:190916800-190917600	Enhancers	HMEC	breast
3	chr2:190916800-190918400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:190916800-190918600	Enhancers	NHEK	skin
5	chr2:190916800-190920200	Weak transcription	HSMM	muscle
6	chr2:190917000-190917400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:190917000-190917400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:190917000-190917600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	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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