Variant report

Variant	rs28549243
Chromosome Location	chr14:68073009-68073010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:68072855-68073120	K562	blood:	n/a	chr14:68072983-68073004
2	CTCF	chr14:68073003-68073015	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000259502	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10131481	1.00[AMR][1000 genomes]
rs10131493	1.00[AMR][1000 genomes]
rs10131731	1.00[AMR][1000 genomes]
rs10131878	1.00[AMR][1000 genomes]
rs10131884	1.00[AMR][1000 genomes]
rs10131990	1.00[AMR][1000 genomes]
rs10133414	1.00[AMR][1000 genomes]
rs10134090	1.00[AMR][1000 genomes]
rs10134923	1.00[AMR][1000 genomes]
rs10135791	1.00[AMR][1000 genomes]
rs10135802	1.00[AMR][1000 genomes]
rs10136402	1.00[AMR][1000 genomes]
rs10136482	1.00[AMR][1000 genomes]
rs10137882	1.00[AMR][1000 genomes]
rs10139933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140733	1.00[AMR][1000 genomes]
rs10141534	1.00[AMR][1000 genomes]
rs10144907	1.00[AMR][1000 genomes]
rs10146550	1.00[AMR][1000 genomes]
rs10146702	1.00[AMR][1000 genomes]
rs10148991	1.00[AMR][1000 genomes]
rs17104480	1.00[AMR][1000 genomes]
rs17104482	1.00[AMR][1000 genomes]
rs17104486	1.00[AMR][1000 genomes]
rs17104488	1.00[AMR][1000 genomes]
rs17104495	1.00[AMR][1000 genomes]
rs17104501	1.00[AMR][1000 genomes]
rs17104512	1.00[AMR][1000 genomes]
rs2320030	0.82[AFR][1000 genomes]
rs28368810	1.00[AMR][1000 genomes]
rs28449642	1.00[AMR][1000 genomes]
rs28457193	1.00[AMR][1000 genomes]
rs28547499	1.00[AMR][1000 genomes]
rs28575699	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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68067400-68076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:68071400-68076200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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