Variant report

Variant	rs11984540
Chromosome Location	chr8:113363386-113363387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10505179	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10955618	0.90[YRI][hapmap]
rs11987697	0.94[YRI][hapmap]
rs11992784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996263	0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1492659	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs16883361	1.00[MEX][hapmap]
rs16883392	1.00[MEX][hapmap]
rs16883408	0.94[YRI][hapmap]
rs16883441	0.94[YRI][hapmap]
rs16883450	0.94[YRI][hapmap]
rs16883478	0.82[ASW][hapmap];0.83[YRI][hapmap]
rs1994795	0.90[YRI][hapmap]
rs1994796	0.90[YRI][hapmap]
rs2111428	1.00[MEX][hapmap]
rs2201203	0.90[YRI][hapmap]
rs4452816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55801599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55898902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56138373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57150366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57215236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57429229	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58804086	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59681478	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59864641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700617	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700634	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700635	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700636	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2755868	chr8:113282795-113634842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2754232	chr8:113294967-113634842	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv891323	chr8:113359377-113394699	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv1798263	chr8:113363350-113364696	Weak transcription	n/a	n/a	inside rSNPs	n/a
8	esv1850905	chr8:113363350-113364696	Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113350000-113378600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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