Variant report

Variant	rs28969696
Chromosome Location	chr2:234563489-234563490
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28898576	1.00[AMR][1000 genomes]
rs28898577	1.00[AMR][1000 genomes]
rs28948380	1.00[AFR][1000 genomes]
rs28968511	1.00[AFR][1000 genomes]
rs28968512	0.89[AFR][1000 genomes]
rs28968514	1.00[AFR][1000 genomes]
rs28969672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28969674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28969678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28969986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28969989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28969990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28969996	1.00[AMR][1000 genomes]
rs28970001	1.00[AMR][1000 genomes]
rs28970002	1.00[AMR][1000 genomes]
rs28970009	1.00[AMR][1000 genomes]
rs28970016	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv876015	chr2:234518011-234579915	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv584704	chr2:234526680-234569137	Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:234563200-234563600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:234563200-234564200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:234563200-234564200	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:234563200-234564200	Enhancers	Stomach Mucosa	stomach

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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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