Variant report

Variant	rs11579386
Chromosome Location	chr1:114075714-114075715
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	chr1:114070024..114072208-chr1:114072683..114075907,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11102629	0.87[CEU][hapmap]
rs11102646	0.87[CEU][hapmap]
rs11577235	0.91[EUR][1000 genomes]
rs11578447	0.87[CEU][hapmap]
rs12117465	0.87[CEU][hapmap]
rs12130729	0.87[CEU][hapmap]
rs12131115	0.87[CEU][hapmap]
rs12144505	0.87[CEU][hapmap]
rs12145834	0.85[CEU][hapmap]
rs17031640	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17031645	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17031648	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17448063	1.00[CEU][hapmap]
rs17461007	0.87[CEU][hapmap]
rs17461231	0.87[CEU][hapmap]
rs17507884	0.87[CEU][hapmap]
rs2359410	0.91[EUR][1000 genomes]
rs56092022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6537788	0.87[CEU][hapmap]
rs6663791	0.91[EUR][1000 genomes]
rs6671518	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6694929	1.00[ASW][hapmap];0.97[MKK][hapmap]
rs6696459	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7514186	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7528311	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7533429	0.87[CEU][hapmap]
rs7545980	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap]
rs7553181	0.91[EUR][1000 genomes]
rs7554422	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap]
rs7555259	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv437013	chr1:114065955-114129092	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114062600-114076600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:114062800-114076600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:114071000-114079800	Weak transcription	A549	lung
4	chr1:114072200-114095800	Weak transcription	Aorta	Aorta
5	chr1:114073000-114076600	Weak transcription	HSMMtube	muscle
6	chr1:114073000-114076800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:114073200-114076600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:114073200-114076600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:114073200-114076600	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:114073200-114076600	Weak transcription	Osteobl	bone
11	chr1:114074600-114076800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:114074800-114076000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:114075600-114075800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:114075600-114077000	Enhancers	NHDF-Ad	bronchial

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