Variant report

Variant	rs7569172
Chromosome Location	chr2:33696484-33696485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10185666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779917	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11124318	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11124320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12612879	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2054132	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4145831	0.84[EUR][1000 genomes]
rs6731587	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6756871	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6756915	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6756985	0.84[AMR][1000 genomes];0.83[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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33693000-33697200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:33693000-33697400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:33693000-33698600	Weak transcription	Right Ventricle	heart
4	chr2:33693000-33699600	Weak transcription	Fetal Heart	heart
5	chr2:33695600-33696600	Enhancers	Left Ventricle	heart
6	chr2:33695600-33700600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:33696200-33696600	Enhancers	Psoas Muscle	Psoas

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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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