Variant report

Variant	rs9654530
Chromosome Location	chr5:119343103-119343104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119339357..119341886-chr5:119342360..119344963,3	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10039840	0.91[EUR][1000 genomes]
rs10519619	0.94[EUR][1000 genomes]
rs11742877	0.98[EUR][1000 genomes]
rs12173248	0.90[EUR][1000 genomes]
rs13354856	0.88[EUR][1000 genomes]
rs1373322	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17145950	0.95[EUR][1000 genomes]
rs17145954	0.94[EUR][1000 genomes]
rs2130733	0.94[EUR][1000 genomes]
rs4073706	0.88[EUR][1000 genomes]
rs4073707	0.88[EUR][1000 genomes]
rs4639259	0.87[EUR][1000 genomes]
rs4895213	0.93[EUR][1000 genomes]
rs4895214	0.94[EUR][1000 genomes]
rs55700824	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs55927647	0.90[EUR][1000 genomes]
rs55992493	0.94[EUR][1000 genomes]
rs56279521	0.90[EUR][1000 genomes]
rs56339003	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs56361151	0.90[EUR][1000 genomes]
rs57621848	0.81[EUR][1000 genomes]
rs57903181	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs59277139	0.94[EUR][1000 genomes]
rs62375599	0.94[EUR][1000 genomes]
rs62375600	0.94[EUR][1000 genomes]
rs6865691	0.89[EUR][1000 genomes]
rs6874179	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6877373	0.95[EUR][1000 genomes]
rs6884836	0.89[EUR][1000 genomes]
rs720649	0.93[EUR][1000 genomes]
rs7712290	0.86[EUR][1000 genomes]
rs7718303	0.84[EUR][1000 genomes]
rs9885349	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv882778	chr5:118972113-119384039	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv599568	chr5:119199265-119414589	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1023146	chr5:119301891-119623417	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv537883	chr5:119301891-119623417	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3331559	chr5:119306944-119536554	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv882780	chr5:119332670-119488924	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119342800-119343400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr5:119342800-119344600	Enhancers	Brain Germinal Matrix	brain
3	chr5:119342800-119346000	Enhancers	Hela-S3	cervix
4	chr5:119343000-119344400	Enhancers	HUES48 Cell Line	embryonic stem cell

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