Variant report

Variant	rs515813
Chromosome Location	chr7:49878488-49878489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1244321	1.00[AMR][1000 genomes]
rs477954	1.00[AMR][1000 genomes]
rs481343	1.00[AMR][1000 genomes]
rs485157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485900	1.00[AMR][1000 genomes]
rs494232	1.00[AMR][1000 genomes]
rs494886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs497605	1.00[AMR][1000 genomes]
rs527240	1.00[AMR][1000 genomes]
rs556184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs562452	1.00[AMR][1000 genomes]
rs564797	1.00[AMR][1000 genomes]
rs575043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs575410	1.00[AMR][1000 genomes]
rs577985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594773	1.00[AMR][1000 genomes]
rs690714	1.00[AMR][1000 genomes]
rs690869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs690996	1.00[AMR][1000 genomes]
rs691275	1.00[AMR][1000 genomes]
rs691424	1.00[AMR][1000 genomes]
rs691465	1.00[AMR][1000 genomes]
rs692378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs692575	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:49865600-49880400	Weak transcription	Ovary	ovary
2	chr7:49875200-49879000	Weak transcription	Right Ventricle	heart
3	chr7:49877800-49889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:49878200-49885800	Weak transcription	Left Ventricle	heart

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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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