Variant report

Variant	rs72893009
Chromosome Location	chr2:53252680-53252681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10198783	0.85[EUR][1000 genomes]
rs1446445	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2121302	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2121304	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2357014	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4995220	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6718975	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1011257	chr2:53212297-53270575	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
4	nsv874139	chr2:53216917-53277205	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
5	nsv581979	chr2:53216917-53288066	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
6	nsv874140	chr2:53218774-53277205	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
7	nsv1000235	chr2:53218841-53290638	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
8	nsv581980	chr2:53219203-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
9	nsv1014197	chr2:53219203-53290638	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
10	nsv581981	chr2:53222962-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
11	esv3459568	chr2:53249263-53252810	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
12	esv3459569	chr2:53249263-53252810	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53248800-53255400	Weak transcription	Fetal Lung	lung
2	chr2:53249000-53254200	Weak transcription	NHDF-Ad	bronchial
3	chr2:53252200-53254000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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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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