Variant report

Variant	rs28366798
Chromosome Location	chr19:42230166-42230167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10405947	0.83[AMR][1000 genomes]
rs10406719	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10410527	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10411490	1.00[AMR][1000 genomes]
rs10412753	0.85[AMR][1000 genomes]
rs10414563	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10417176	1.00[AMR][1000 genomes]
rs13343300	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28521200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8103664	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv482220	chr19:42212530-42234436	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3425986	chr19:42212540-42259719	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr19:42217800-42230200	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr19:42217800-42231200	Weak transcription	Fetal Intestine Small	intestine
3	chr19:42223000-42230600	Weak transcription	Stomach Mucosa	stomach
4	chr19:42225800-42230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:42230000-42230400	Strong transcription	Colonic Mucosa	Colon
6	chr19:42230000-42232000	Strong transcription	Rectal Mucosa Donor 29	rectum

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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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