Variant report

Variant	rs2247639
Chromosome Location	chr6:81304573-81304574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10447325	0.86[EUR][1000 genomes]
rs10447326	0.86[EUR][1000 genomes]
rs10806194	0.84[EUR][1000 genomes]
rs10943720	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs10943727	0.80[EUR][1000 genomes]
rs10943728	0.80[EUR][1000 genomes]
rs12195347	0.81[EUR][1000 genomes]
rs1840332	0.81[ASN][1000 genomes]
rs1840334	0.80[EUR][1000 genomes]
rs2168103	0.88[EUR][1000 genomes]
rs2322842	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2322843	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2444793	0.81[ASN][1000 genomes]
rs2444826	0.81[ASN][1000 genomes]
rs2444827	0.81[ASN][1000 genomes]
rs2503728	0.81[ASN][1000 genomes]
rs2603458	0.90[EUR][1000 genomes]
rs2653484	0.90[EUR][1000 genomes]
rs28360539	0.86[EUR][1000 genomes]
rs2917600	0.81[EUR][1000 genomes]
rs4315973	0.81[EUR][1000 genomes]
rs4394171	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4410688	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs471335	0.82[EUR][1000 genomes]
rs480295	0.82[EUR][1000 genomes]
rs541037	0.81[EUR][1000 genomes]
rs541841	0.82[EUR][1000 genomes]
rs546848	0.82[EUR][1000 genomes]
rs549621	0.82[EUR][1000 genomes]
rs62406533	0.83[EUR][1000 genomes]
rs667882	0.82[EUR][1000 genomes]
rs683706	0.82[EUR][1000 genomes]
rs6921723	0.96[CEU][hapmap]
rs6926124	0.80[EUR][1000 genomes]
rs6933382	0.83[EUR][1000 genomes]
rs6936716	0.83[EUR][1000 genomes]
rs722715	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7750052	0.87[ASN][1000 genomes]
rs9449074	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9449093	0.83[ASN][1000 genomes]
rs953498	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs953499	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs953500	0.82[AMR][1000 genomes];0.84[EUR][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	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	nsv1020533	chr6:81288890-81406533	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv538340	chr6:81288890-81406533	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv508417	chr6:81290516-81330590	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv604085	chr6:81297890-81439973	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 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	chr6:81304200-81304800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:81304400-81304800	Enhancers	HSMM	muscle
4	chr6:81304400-81304800	Enhancers	NHDF-Ad	bronchial

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