Variant report

Variant	rs72717779
Chromosome Location	chr14:55893440-55893441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55877097..55882120-chr14:55890369..55898508,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239199	Chromatin interaction
ENSG00000126775	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10134905	0.85[EUR][1000 genomes]
rs10137395	0.83[EUR][1000 genomes]
rs10144034	0.85[EUR][1000 genomes]
rs10144130	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10150596	0.85[EUR][1000 genomes]
rs10150617	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10782426	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11627790	0.82[EUR][1000 genomes]
rs11845228	0.86[EUR][1000 genomes]
rs12431542	0.84[EUR][1000 genomes]
rs12887653	0.87[EUR][1000 genomes]
rs12888181	0.89[EUR][1000 genomes]
rs12888234	0.84[EUR][1000 genomes]
rs12888361	0.89[EUR][1000 genomes]
rs12893964	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1572613	0.88[EUR][1000 genomes]
rs2152975	0.86[EUR][1000 genomes]
rs2152976	0.88[EUR][1000 genomes]
rs2185036	0.86[EUR][1000 genomes]
rs28478984	0.84[EUR][1000 genomes]
rs34652660	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4243600	0.87[EUR][1000 genomes]
rs4898865	0.85[EUR][1000 genomes]
rs4901562	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4901563	0.87[EUR][1000 genomes]
rs4901564	0.85[EUR][1000 genomes]
rs4901565	0.84[EUR][1000 genomes]
rs4901567	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4901568	0.85[EUR][1000 genomes]
rs4901570	0.85[EUR][1000 genomes]
rs56015424	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61976570	0.86[EUR][1000 genomes]
rs61976571	0.88[EUR][1000 genomes]
rs6573028	0.84[EUR][1000 genomes]
rs6573029	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573031	0.85[EUR][1000 genomes]
rs6573032	0.85[EUR][1000 genomes]
rs713477	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7142204	0.88[EUR][1000 genomes]
rs7146170	0.85[EUR][1000 genomes]
rs7146269	0.85[EUR][1000 genomes]
rs7146306	0.84[EUR][1000 genomes]
rs7146472	0.86[EUR][1000 genomes]
rs7147415	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7147968	0.88[EUR][1000 genomes]
rs7148481	0.88[EUR][1000 genomes]
rs7149622	0.88[EUR][1000 genomes]
rs8009706	0.85[EUR][1000 genomes]
rs8010013	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014526	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8014621	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8020152	0.87[EUR][1000 genomes]
rs9635231	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
3	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55890600-55900600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:55890800-55893600	Weak transcription	K562	blood
3	chr14:55891800-55895600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:55891800-55896600	Weak transcription	Primary T cells from cord blood	blood
5	chr14:55892000-55896600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:55892000-55896600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:55893400-55894200	Enhancers	Hela-S3	cervix
8	chr14:55893400-55897000	Enhancers	NHEK	skin

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