Variant report

Variant	rs72830393
Chromosome Location	chr2:115521914-115521915
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13383177	0.83[AMR][1000 genomes]
rs17043547	1.00[AMR][1000 genomes]
rs72830388	1.00[AMR][1000 genomes]
rs72830391	0.82[EUR][1000 genomes]
rs72830394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72830402	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv431524	chr2:115425650-115530770	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv582715	chr2:115495142-115573499	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv459019	chr2:115495142-115599013	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv874907	chr2:115515053-115532766	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv874908	chr2:115515053-115535141	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv874909	chr2:115515053-115536791	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv874910	chr2:115515053-115543018	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv874911	chr2:115515053-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv874912	chr2:115516080-115536791	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv874913	chr2:115516080-115542869	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv470481	chr2:115520204-115535141	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv874914	chr2:115520205-115536791	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
15	nsv437513	chr2:115520205-115543018	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv874915	chr2:115520205-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115520200-115526200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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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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