Variant report

Variant	rs74066227
Chromosome Location	chr14:82080344-82080345
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17115727	1.00[AMR][1000 genomes]
rs56117508	0.84[AFR][1000 genomes]
rs57354905	1.00[AMR][1000 genomes]
rs60404476	1.00[AMR][1000 genomes]
rs60994561	1.00[AMR][1000 genomes]
rs74065153	1.00[AMR][1000 genomes]
rs74065171	1.00[AMR][1000 genomes]
rs74066208	1.00[AMR][1000 genomes]
rs74066209	1.00[AMR][1000 genomes]
rs74066223	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066241	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1052666	chr14:82069162-83028382	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv902121	chr14:82075469-82146538	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr14:82079200-82080800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:82079600-82080400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:82079800-82080600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr14:82080000-82080400	Enhancers	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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