Variant report

Variant	rs28631381
Chromosome Location	chr2:233808419-233808420
allele	A/C/T
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]
rs58480585	1.00[AMR][1000 genomes]
rs61351720	1.00[AMR][1000 genomes]
rs61750834	1.00[AMR][1000 genomes]
rs6712466	1.00[AMR][1000 genomes]
rs73094939	1.00[AMR][1000 genomes]
rs73094949	1.00[AMR][1000 genomes]
rs73094951	1.00[AMR][1000 genomes]
rs73094978	1.00[AMR][1000 genomes]
rs73094980	1.00[AMR][1000 genomes]
rs73094987	1.00[AMR][1000 genomes]
rs73102287	1.00[AMR][1000 genomes]
rs73102744	1.00[AMR][1000 genomes]
rs73106309	1.00[AMR][1000 genomes]
rs73107107	1.00[AMR][1000 genomes]
rs73108323	1.00[AMR][1000 genomes]
rs73108335	1.00[AMR][1000 genomes]
rs73108362	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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1014548	chr2:233777859-233816018	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv876010	chr2:233801356-233839052	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233794400-233835800	Weak transcription	Pancreas	Pancrea
2	chr2:233802600-233837200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:233805800-233813800	Weak transcription	HepG2	liver
4	chr2:233807200-233822600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:233807200-233826000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:233807200-233837800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:233807400-233822400	Weak transcription	Liver	Liver

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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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