Variant report

Variant	rs58446135
Chromosome Location	chr2:53248674-53248675
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12151673	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12476447	0.90[ASN][1000 genomes]
rs17044037	0.83[ASN][1000 genomes]
rs17044055	0.87[ASN][1000 genomes]
rs2067947	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2121301	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2121303	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2884076	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55720192	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60579522	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6719459	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6755812	0.81[ASN][1000 genomes]
rs72795360	0.90[ASN][1000 genomes]
rs7595496	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1011257	chr2:53212297-53270575	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
5	nsv874139	chr2:53216917-53277205	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
6	nsv581979	chr2:53216917-53288066	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
7	nsv874140	chr2:53218774-53277205	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
8	nsv1000235	chr2:53218841-53290638	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
9	nsv581980	chr2:53219203-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
10	nsv1014197	chr2:53219203-53290638	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
11	nsv581981	chr2:53222962-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53248200-53248800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:53248200-53248800	Enhancers	Fetal Stomach	stomach
3	chr2:53248200-53249000	Enhancers	NHDF-Ad	bronchial
4	chr2:53248400-53248800	Enhancers	Fetal Lung	lung
5	chr2:53248400-53249000	Enhancers	NHLF	lung
6	chr2:53248600-53248800	Enhancers	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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