Variant report

Variant	rs2994947
Chromosome Location	chr1:85052592-85052593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85047686..85049603-chr1:85052404..85054227,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10874451	1.00[CHB][hapmap]
rs12125418	0.86[CHB][hapmap]
rs1400777	0.82[AMR][1000 genomes]
rs1850508	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1850509	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2007454	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2203455	0.95[ASN][1000 genomes]
rs2911590	1.00[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2911593	0.82[AMR][1000 genomes]
rs2911595	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911597	0.90[ASN][1000 genomes]
rs2911603	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2911604	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2911605	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943663	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943669	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2943670	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2943671	0.98[ASN][1000 genomes]
rs2943675	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2943676	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2943677	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2943678	0.90[EUR][1000 genomes]
rs2945140	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945142	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945143	0.88[ASN][1000 genomes]
rs2945145	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2945146	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2945147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2945148	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2945149	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2945150	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945152	1.00[CEU][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2945155	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs2945158	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2994938	0.84[ASN][1000 genomes]
rs2994940	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2994943	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2994944	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2994946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4907079	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6690204	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6692765	0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85049200-85053200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:85050000-85053200	Weak transcription	Fetal Brain Male	brain
3	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:85052000-85064600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:85052400-85052600	Enhancers	Spleen	Spleen
6	chr1:85052400-85052800	Enhancers	HSMMtube	muscle
7	chr1:85052400-85053400	Enhancers	Skeletal Muscle Female	skeletal muscle

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