Variant report

Variant	rs12659444
Chromosome Location	chr5:118190890-118190891
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	chr5:118186238..118188903-chr5:118190266..118193143,3	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10447237	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11949851	0.80[EUR][1000 genomes]
rs12187606	0.94[GIH][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1567521	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17132673	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17144708	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17144714	1.00[CEU][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17144715	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17144716	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17144806	0.94[GIH][hapmap]
rs1864109	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2099092	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2115301	0.83[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2115302	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2162888	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs370827	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3813297	0.83[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3813298	1.00[CEU][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs383585	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs386288	0.90[EUR][1000 genomes]
rs400967	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs447317	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4895183	0.94[GIH][hapmap];0.81[MKK][hapmap]
rs4895347	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4895353	1.00[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4895354	1.00[CEU][hapmap];0.85[GIH][hapmap];0.90[LWK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55821851	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs581887	0.92[EUR][1000 genomes]
rs635083	0.92[EUR][1000 genomes]
rs6861907	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6871241	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6874109	0.94[GIH][hapmap];0.81[AMR][1000 genomes]
rs6881583	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6881776	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6886240	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73234489	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73234502	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73236920	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73792419	0.80[AFR][1000 genomes]
rs7701819	0.88[AMR][1000 genomes]
rs7709381	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7722027	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7726905	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs822743	0.80[EUR][1000 genomes]
rs849728	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv882771	chr5:118170135-118230640	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv882772	chr5:118173127-118230640	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882773	chr5:118175640-118241854	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118169600-118208600	Weak transcription	Aorta	Aorta
2	chr5:118189400-118209400	Weak transcription	Primary T cells from cord blood	blood
3	chr5:118189600-118205400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:118189600-118210600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:118190400-118191000	Weak transcription	Fetal Intestine Small	intestine
6	chr5:118190600-118191000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:118190600-118209000	Weak transcription	Left Ventricle	heart
8	chr5:118190800-118210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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