Variant report

Variant	rs12443612
Chromosome Location	chr16:76110970-76110971
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:76109470..76111074-chr16:76115250..76116774,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11149864	0.93[ASN][1000 genomes]
rs11149868	0.82[ASN][1000 genomes]
rs11149869	0.82[ASN][1000 genomes]
rs11149870	0.81[ASN][1000 genomes]
rs11149872	0.81[ASN][1000 genomes]
rs11149873	0.81[ASN][1000 genomes]
rs11643060	0.82[ASN][1000 genomes]
rs11648269	0.80[ASN][1000 genomes]
rs11648313	0.82[ASN][1000 genomes]
rs12149144	0.85[EUR][1000 genomes]
rs12149693	0.86[EUR][1000 genomes]
rs12597900	0.82[EUR][1000 genomes]
rs13331826	0.81[ASN][1000 genomes]
rs13332847	0.81[ASN][1000 genomes]
rs1345851	0.82[EUR][1000 genomes]
rs1423861	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16943890	0.82[EUR][1000 genomes]
rs17616209	0.82[EUR][1000 genomes]
rs2113187	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2278056	0.82[ASN][1000 genomes]
rs2288059	0.82[EUR][1000 genomes]
rs2288061	0.82[EUR][1000 genomes]
rs2454144	0.97[ASN][1000 genomes]
rs28417077	0.82[ASN][1000 genomes]
rs28427486	0.82[EUR][1000 genomes]
rs28502178	0.83[EUR][1000 genomes]
rs2866267	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs28694017	0.82[EUR][1000 genomes]
rs35188445	0.82[EUR][1000 genomes]
rs4888469	0.82[EUR][1000 genomes]
rs4888470	0.82[EUR][1000 genomes]
rs4888471	0.82[EUR][1000 genomes]
rs4888472	0.82[EUR][1000 genomes]
rs4888473	0.82[EUR][1000 genomes]
rs4888474	0.82[EUR][1000 genomes]
rs4888475	0.82[EUR][1000 genomes]
rs4888476	0.82[EUR][1000 genomes]
rs4888477	0.82[EUR][1000 genomes]
rs4888478	0.82[EUR][1000 genomes]
rs55957576	0.81[ASN][1000 genomes]
rs57240485	0.82[EUR][1000 genomes]
rs57581470	0.82[EUR][1000 genomes]
rs58760118	0.82[EUR][1000 genomes]
rs61186286	0.80[EUR][1000 genomes]
rs6564307	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67048930	0.82[EUR][1000 genomes]
rs7187805	0.82[EUR][1000 genomes]
rs7189202	0.81[ASN][1000 genomes]
rs7195475	0.81[EUR][1000 genomes]
rs7195777	0.82[EUR][1000 genomes]
rs7198334	0.83[EUR][1000 genomes]
rs724246	0.82[EUR][1000 genomes]
rs724247	0.82[EUR][1000 genomes]
rs8050585	0.81[ASN][1000 genomes]
rs8051074	0.84[EUR][1000 genomes]
rs8053596	0.81[ASN][1000 genomes]
rs8056266	0.82[EUR][1000 genomes]
rs918691	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9635566	0.82[ASN][1000 genomes]
rs9635567	0.82[ASN][1000 genomes]
rs972538	0.82[EUR][1000 genomes]
rs977044	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9937270	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9937977	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1064607	chr16:75787129-76449101	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1065794	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv542961	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1059162	chr16:75929348-76730816	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv572995	chr16:75935025-76708417	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv572996	chr16:75935025-76735249	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv817220	chr16:75939705-76735383	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1056021	chr16:75955522-76729765	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv542962	chr16:75955522-76729765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv906935	chr16:76031737-76453110	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv906936	chr16:76031737-76768178	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv833284	chr16:76057741-76205989	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv817549	chr16:76067068-76582099	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv906937	chr16:76077294-76163049	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76106000-76115000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76110800-76111000	Enhancers	HMEC	breast

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