Variant report

Variant	rs17607671
Chromosome Location	chr8:87340175-87340176
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	chr8:87334379..87336674-chr8:87338339..87340717,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10099858	0.89[CEU][hapmap]
rs10504824	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17607526	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17607762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17682190	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41374044	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688516	1.00[AMR][1000 genomes]
rs72688541	0.83[EUR][1000 genomes]
rs72688543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688555	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688556	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688567	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72688569	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688571	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688572	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688578	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688580	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688583	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17607671	CPNE3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87334800-87346400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:87339600-87342600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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