Variant report

Variant	rs73080834
Chromosome Location	chr2:213468704-213468705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16848746	1.00[AMR][1000 genomes]
rs16848762	1.00[AMR][1000 genomes]
rs57136034	1.00[AMR][1000 genomes]
rs73062365	1.00[AMR][1000 genomes]
rs73063136	1.00[AMR][1000 genomes]
rs73063170	1.00[AMR][1000 genomes]
rs73071786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079457	1.00[AMR][1000 genomes]
rs73079466	1.00[AMR][1000 genomes]
rs73079471	1.00[AMR][1000 genomes]
rs73080838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73080855	1.00[AMR][1000 genomes]
rs7586778	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	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3459104	chr2:213465833-213470603	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3459102	chr2:213465857-213470603	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3459103	chr2:213465897-213470559	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3459105	chr2:213465897-213470559	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213462600-213483200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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