Variant report

Variant	rs28954078
Chromosome Location	chr2:113752060-113752061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10189265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887725	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11887726	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28928276	1.00[AMR][1000 genomes]
rs28928298	1.00[AMR][1000 genomes]
rs28938773	1.00[AMR][1000 genomes]
rs28938789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28947211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35513679	1.00[AMR][1000 genomes]
rs4251996	1.00[AMR][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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv874878	chr2:113742734-113776076	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113750600-113754400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr2:113751200-113752200	Enhancers	HepG2	liver
3	chr2:113751200-113753200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr2:113751200-113755600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:113751400-113753000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:113751400-113755600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:113751600-113753200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:113751800-113752400	Enhancers	Stomach Mucosa	stomach
9	chr2:113751800-113755600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:113752000-113753200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:113752000-113754400	Enhancers	Primary T cells from cord blood	blood
12	chr2:113752000-113755600	Enhancers	Primary T cells fromperipheralblood	blood

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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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