Variant report

Variant	rs546558
Chromosome Location	chr17:67331717-67331718
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67330751..67333572-chr17:73806096..73810469,4	MCF-7	breast:
2	chr17:67330914..67331831-chr17:67520698..67522366,8	MCF-7	breast:
3	chr17:67330688..67335128-chr17:73779500..73784988,5	MCF-7	breast:
4	chr17:67330738..67332882-chr17:67336337..67338723,2	MCF-7	breast:
5	chr17:67330877..67332121-chr17:67519091..67520071,5	MCF-7	breast:
6	chr17:67331323..67334222-chr17:73811179..73815189,3	MCF-7	breast:
7	chr17:67330903..67331859-chr17:73768012..73768857,5	MCF-7	breast:
8	chr17:67319063..67338122-chr17:73766152..73783684,87	MCF-7	breast:
9	chr17:67330891..67331962-chr17:67390648..67391820,4	MCF-7	breast:
10	chr17:67325454..67338838-chr17:73810118..73818942,31	MCF-7	breast:
11	chr17:67329716..67332648-chr17:73759704..73762661,4	MCF-7	breast:
12	chr17:67330643..67338460-chr17:73766924..73777114,36	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000132475	Chromatin interaction
ENSG00000266980	Chromatin interaction
ENSG00000108479	Chromatin interaction
ENSG00000132478	Chromatin interaction
ENSG00000263565	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12150548	0.90[EUR][1000 genomes]
rs12450405	0.90[EUR][1000 genomes]
rs12452605	0.90[EUR][1000 genomes]
rs17687227	0.90[EUR][1000 genomes]
rs1822408	0.90[EUR][1000 genomes]
rs35819023	0.85[ASN][1000 genomes]
rs482529	0.85[ASN][1000 genomes]
rs490395	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs508612	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520585	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540281	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs540839	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs551011	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571598	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60107058	0.90[EUR][1000 genomes]
rs920766	0.89[EUR][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	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
2	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv908706	chr17:67290840-67332355	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67324200-67336200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr17:67328400-67341200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:67331400-67331800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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