Variant report

Variant	rs10943724
Chromosome Location	chr6:81302805-81302806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:81298968..81300811-chr6:81302050..81303773,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10447324	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10447325	0.80[ASN][1000 genomes]
rs10447326	0.80[ASN][1000 genomes]
rs10943720	0.91[CHB][hapmap];0.93[CHD][hapmap];0.87[MEX][hapmap]
rs10943725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10943726	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10943727	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10943728	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11964999	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12207977	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13203786	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1454446	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1840334	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2168103	0.93[ASN][1000 genomes]
rs2603458	0.95[ASN][1000 genomes]
rs2653484	0.95[ASN][1000 genomes]
rs28360539	0.80[ASN][1000 genomes]
rs4706121	0.81[EUR][1000 genomes]
rs6913206	0.81[CEU][hapmap]
rs6915595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926124	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6940307	1.00[AFR][1000 genomes]
rs9449074	0.83[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv886312	chr6:81166178-81309481	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2757182	chr6:81265495-81304211	Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2759448	chr6:81265495-81304211	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1020533	chr6:81288890-81406533	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv538340	chr6:81288890-81406533	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv508417	chr6:81290516-81330590	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv604085	chr6:81297890-81439973	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv7934	chr6:81299078-81303875	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv823760	chr6:81299581-81304386	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Thiazide-induced adverse metabolic effects in hypertensive patients	23400010	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81294800-81317000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81301600-81303000	Enhancers	Fetal Lung	lung

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