Variant report

Variant	rs72861874
Chromosome Location	chr2:30350503-30350504
allele	G/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]
rs10171126	0.90[AMR][1000 genomes]
rs10190925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387960	0.90[AMR][1000 genomes]
rs13388821	0.81[AMR][1000 genomes]
rs13401621	0.90[AMR][1000 genomes]
rs13402417	0.81[AMR][1000 genomes]
rs13403955	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13412185	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13414174	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415390	0.81[AMR][1000 genomes]
rs13415732	0.90[AMR][1000 genomes]
rs13417286	0.90[AMR][1000 genomes]
rs13419838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424818	0.81[AMR][1000 genomes]
rs60363102	0.90[AMR][1000 genomes]
rs6547995	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7561610	0.90[AMR][1000 genomes]
rs7583803	0.98[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30349600-30351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:30349800-30350600	Enhancers	HMEC	breast
3	chr2:30349800-30350600	Enhancers	NHEK	skin
4	chr2:30349800-30351000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:30349800-30351000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:30350000-30350600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:30350000-30351000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:30350200-30350600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:30350400-30350600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:30350400-30350600	Flanking Active TSS	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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