Variant report

Variant	rs4714990
Chromosome Location	chr6:12927845-12927846
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12927202..12927897-chr6:13148834..13149408,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1014342	0.85[ASW][hapmap];1.00[CEU][hapmap];0.91[MEX][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12176425	1.00[CHB][hapmap]
rs12526453	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1332844	0.92[CEU][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs1953088	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2210513	1.00[CHB][hapmap]
rs2210514	1.00[CHB][hapmap]
rs2327620	0.86[AMR][1000 genomes]
rs2327621	1.00[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs2876303	1.00[CEU][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34343839	0.86[EUR][1000 genomes]
rs4711863	0.92[CEU][hapmap]
rs4714955	0.89[CEU][hapmap]
rs62386818	0.86[EUR][1000 genomes]
rs6458545	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6912630	1.00[CHB][hapmap]
rs6926919	1.00[CHB][hapmap]
rs6940481	1.00[CHB][hapmap]
rs6941877	1.00[CHB][hapmap]
rs7454157	0.92[CEU][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap]
rs7739181	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7750679	0.92[CEU][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs7751826	0.91[CEU][hapmap]
rs7760016	0.87[AMR][1000 genomes]
rs7760527	0.87[AMR][1000 genomes]
rs8180558	1.00[CEU][hapmap]
rs9296512	0.92[CEU][hapmap];0.86[GIH][hapmap]
rs9296525	1.00[CHB][hapmap]
rs9296526	1.00[CHB][hapmap]
rs9296527	1.00[CHB][hapmap]
rs9349390	1.00[CHB][hapmap]
rs9357521	0.94[CHB][hapmap]
rs9357522	0.94[CHB][hapmap]
rs9367262	1.00[CHB][hapmap]
rs9369640	0.92[CEU][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap]
rs9369650	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9369652	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9369654	1.00[CHB][hapmap]
rs9369655	1.00[CHB][hapmap]
rs9381494	0.87[AMR][1000 genomes]
rs9381500	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9381507	1.00[CHB][hapmap]
rs9381511	1.00[CHB][hapmap]
rs9381512	1.00[CHB][hapmap]
rs9381513	1.00[CHB][hapmap]
rs9395214	0.92[CEU][hapmap];0.86[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes]
rs9395226	1.00[CHB][hapmap]
rs9395229	1.00[CHB][hapmap]
rs9395240	1.00[CHB][hapmap]
rs9463303	1.00[CHB][hapmap]

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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv5202	chr6:12916229-12958517	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4714990	C6orf105	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12912200-12929800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:12927400-12931800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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