Variant report

Variant	rs17044784
Chromosome Location	chr2:53699390-53699391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12473250	0.86[EUR][1000 genomes]
rs17044786	1.00[CEU][hapmap];0.91[TSI][hapmap];1.00[EUR][1000 genomes]
rs55923674	1.00[ASN][1000 genomes]
rs56720868	1.00[EUR][1000 genomes]
rs57814783	0.90[EUR][1000 genomes]
rs59569722	1.00[ASN][1000 genomes]
rs61628104	0.87[ASN][1000 genomes]
rs6545349	1.00[EUR][1000 genomes]
rs6545350	1.00[EUR][1000 genomes]
rs6704836	0.84[EUR][1000 genomes]
rs6705194	0.90[EUR][1000 genomes]
rs6713068	0.90[EUR][1000 genomes]
rs6720273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs6722171	0.95[EUR][1000 genomes]
rs6727792	0.98[EUR][1000 genomes]
rs6731590	0.83[EUR][1000 genomes]
rs6741631	0.90[EUR][1000 genomes]
rs6751127	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs6756089	1.00[EUR][1000 genomes]
rs6756100	0.83[EUR][1000 genomes]
rs6756104	0.83[EUR][1000 genomes]
rs6759361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs6759454	1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs72908927	0.87[ASN][1000 genomes]
rs72908932	0.87[ASN][1000 genomes]
rs72908943	0.87[ASN][1000 genomes]
rs72908990	0.90[EUR][1000 genomes]
rs72908995	0.84[EUR][1000 genomes]
rs73934291	0.87[ASN][1000 genomes]
rs73937308	1.00[EUR][1000 genomes]
rs7595651	1.00[EUR][1000 genomes]
rs9784047	0.84[EUR][1000 genomes]
rs9784059	0.82[EUR][1000 genomes]
rs985549	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1008648	chr2:53683543-53708531	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv457862	chr2:53687730-53706903	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv582008	chr2:53687730-53706903	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv999571	chr2:53690538-53775723	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1012754	chr2:53690538-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv522771	chr2:53693619-53701324	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53698000-53706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:53698200-53700400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:53698200-53702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:53698200-53702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:53698200-53702200	Weak transcription	HMEC	breast
6	chr2:53698200-53702200	Weak transcription	NHEK	skin

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