Variant report

Variant	rs17044078
Chromosome Location	chr2:53314199-53314200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17044082	0.86[EUR][1000 genomes]
rs17044107	0.94[EUR][1000 genomes]
rs17044109	0.88[EUR][1000 genomes]
rs17044113	0.85[EUR][1000 genomes]
rs17267748	0.83[AFR][1000 genomes]
rs58330496	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60327066	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs60398014	0.96[EUR][1000 genomes]
rs61570270	0.83[EUR][1000 genomes]
rs66702426	0.92[EUR][1000 genomes]
rs66795271	0.85[AFR][1000 genomes]
rs66801688	0.92[EUR][1000 genomes]
rs67002523	0.89[EUR][1000 genomes]
rs67051768	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6717300	0.83[EUR][1000 genomes]
rs67569557	0.95[EUR][1000 genomes]
rs67901982	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68139522	0.82[EUR][1000 genomes]
rs72797245	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv874141	chr2:53263644-53352630	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53313600-53315800	Enhancers	NHLF	lung
2	chr2:53313800-53315000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:53313800-53315200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:53313800-53315400	Enhancers	NHDF-Ad	bronchial
5	chr2:53314000-53315000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:53314000-53315000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:53314000-53315000	Enhancers	Hela-S3	cervix
8	chr2:53314000-53315200	Enhancers	NHEK	skin

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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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