Variant report

Variant	rs72917571
Chromosome Location	chr2:55034023-55034024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11888386	1.00[EUR][1000 genomes]
rs1549839	1.00[EUR][1000 genomes]
rs17046281	1.00[EUR][1000 genomes]
rs57623434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57749522	1.00[EUR][1000 genomes]
rs58833605	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs58937764	1.00[AMR][1000 genomes]
rs59755359	1.00[EUR][1000 genomes]
rs60282658	1.00[EUR][1000 genomes]
rs60853661	1.00[EUR][1000 genomes]
rs6740557	1.00[EUR][1000 genomes]
rs6743161	1.00[EUR][1000 genomes]
rs6751570	1.00[EUR][1000 genomes]
rs72906405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906407	1.00[EUR][1000 genomes]
rs72906419	1.00[EUR][1000 genomes]
rs72906421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911566	1.00[EUR][1000 genomes]
rs72911570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913543	1.00[EUR][1000 genomes]
rs72913547	1.00[EUR][1000 genomes]
rs72913549	1.00[EUR][1000 genomes]
rs72913551	1.00[EUR][1000 genomes]
rs72915537	1.00[EUR][1000 genomes]
rs72915543	1.00[EUR][1000 genomes]
rs72915544	1.00[EUR][1000 genomes]
rs72915554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915563	1.00[EUR][1000 genomes]
rs72915572	1.00[EUR][1000 genomes]
rs72915587	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915590	1.00[EUR][1000 genomes]
rs72917518	1.00[EUR][1000 genomes]
rs72917541	1.00[EUR][1000 genomes]
rs72917550	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919507	1.00[EUR][1000 genomes]
rs72920570	1.00[AMR][1000 genomes]
rs72920576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7572839	1.00[EUR][1000 genomes]
rs7580158	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1844727	chr2:54999712-55084583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv870295	chr2:55008613-55065985	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv470465	chr2:55010115-55034113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv874152	chr2:55023600-55060479	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55031800-55036600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:55031800-55036600	Weak transcription	NHEK	skin
3	chr2:55032000-55035400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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