Variant report

Variant	rs4319888
Chromosome Location	chr2:212963295-212963296
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166993	0.86[EUR][1000 genomes]
rs10179617	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10932420	0.89[EUR][1000 genomes]
rs12104833	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12618100	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12618158	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13395352	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1521548	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1521549	0.91[EUR][1000 genomes]
rs1851260	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4673649	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212962400-212963600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:212963200-212971400	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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