Variant report

Variant	rs3008489
Chromosome Location	chr14:85002653-85002654
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1349177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1449093	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1449118	1.00[YRI][hapmap];0.96[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2998300	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2998310	1.00[AMR][1000 genomes]
rs3008486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3008487	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs962665	0.92[AFR][1000 genomes];1.00[AMR][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	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
3	nsv1052415	chr14:85001891-85078853	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85001200-85003000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr14:85001200-85010800	Weak transcription	Ovary	ovary
3	chr14:85001400-85003000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:85001600-85003000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:85002200-85002800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:85002400-85003000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:85002400-85003000	Enhancers	HUES48 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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