Variant report

Variant	rs16840549
Chromosome Location	chr2:209006755-209006756
allele	A/C
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:19)

rs_ID	r²[population]
rs10164892	1.00[EUR][1000 genomes]
rs11898493	1.00[AMR][1000 genomes]
rs13397304	1.00[EUR][1000 genomes]
rs16840567	1.00[AMR][1000 genomes]
rs16840571	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840588	1.00[AMR][1000 genomes]
rs16840591	1.00[AMR][1000 genomes]
rs16840598	1.00[AMR][1000 genomes]
rs16840602	1.00[AMR][1000 genomes]
rs16840606	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840611	1.00[AMR][1000 genomes]
rs7561755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7561834	1.00[AMR][1000 genomes]
rs7579850	1.00[AMR][1000 genomes]
rs7587800	1.00[AMR][1000 genomes]
rs7588250	1.00[AMR][1000 genomes]
rs7593859	1.00[AMR][1000 genomes]
rs7593938	1.00[AMR][1000 genomes]
rs7594369	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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875747	chr2:208990345-209042963	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv875748	chr2:208994399-209033557	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209001800-209006800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:209004400-209006800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:209004400-209012800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:209006600-209007800	Enhancers	HMEC	breast
5	chr2:209006600-209008200	Enhancers	Brain Germinal Matrix	brain

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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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