Variant report

Variant	rs3008487
Chromosome Location	chr14:85000238-85000239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1349177	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1449093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1449118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1449119	1.00[AMR][1000 genomes]
rs1551012	1.00[AMR][1000 genomes]
rs1597281	1.00[AMR][1000 genomes]
rs1823326	1.00[AMR][1000 genomes]
rs1868450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2998300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2998310	1.00[AMR][1000 genomes]
rs3008486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3008489	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs962665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751288	chr14:84815330-85704047	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1046875	chr14:84993510-85193250	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84987800-85001600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:84999800-85000800	Weak transcription	Ovary	ovary
3	chr14:85000000-85001400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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