Variant report

Variant	rs2719090
Chromosome Location	chr2:35687540-35687541
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11686853	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2714578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2714581	0.82[AFR][1000 genomes]
rs2714587	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2714589	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2714592	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2719085	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2719087	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2719098	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2719108	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4284811	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4438459	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4453666	0.81[EUR][1000 genomes]
rs4513272	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4670471	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67507013	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72796482	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7572978	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010722	chr2:35072575-35950219	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv519522	chr2:35425529-35861883	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1008651	chr2:35469467-35896486	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv999139	chr2:35483033-35860024	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv535636	chr2:35483033-35860024	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv873848	chr2:35641532-35973963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv581402	chr2:35670916-35702533	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1014577	chr2:35672382-35714924	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
9	nsv873849	chr2:35684885-35717239	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35686600-35689000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:35686600-35689600	Enhancers	HSMM	muscle
3	chr2:35687400-35687800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:35687400-35687800	Enhancers	HSMMtube	muscle
5	chr2:35687400-35687800	Flanking Active TSS	NH-A	brain
6	chr2:35687400-35687800	Enhancers	NHLF	lung
7	chr2:35687400-35688200	Enhancers	Fetal Brain Male	brain
8	chr2:35687400-35688400	Enhancers	HMEC	breast

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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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