Variant report

Variant	rs28954070
Chromosome Location	chr2:113743573-113743574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12328178	1.00[AMR][1000 genomes]
rs28954069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28954073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28954368	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707930	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73955290	1.00[AMR][1000 genomes]
rs9973878	0.99[AFR][1000 genomes];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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113736000-113747400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113742000-113743800	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr2:113742000-113744000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:113742200-113743800	Enhancers	Fetal Thymus	thymus
5	chr2:113742200-113744000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:113742200-113744000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:113742200-113744000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:113742200-113744200	Enhancers	Primary T cells from cord blood	blood
9	chr2:113742400-113743600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:113742400-113743600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:113742400-113743800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:113742400-113744000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:113742400-113744000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:113742400-113744200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:113742600-113743800	Enhancers	Thymus	Thymus
16	chr2:113742600-113744000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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