Variant report

Variant	rs2994946
Chromosome Location	chr1:85053138-85053139
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	chr1:85047686..85049603-chr1:85052404..85054227,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12403545	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs1246253	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs1246254	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs1400777	0.82[AMR][1000 genomes];0.81[ASN][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]
rs2303306	0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs2303307	0.87[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs2911588	0.91[ASN][1000 genomes]
rs2911589	0.94[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs2911590	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911591	0.96[ASN][1000 genomes]
rs2911592	0.92[ASN][1000 genomes]
rs2911593	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2911595	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs2911598	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2911599	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs2911603	0.95[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];0.81[ASN][1000 genomes]
rs2943670	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2943675	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943676	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943677	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943678	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945140	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945142	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945146	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2945148	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2945149	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2945150	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945153	0.94[ASN][1000 genomes]
rs2945155	0.80[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945158	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945160	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994937	0.85[ASN][1000 genomes]
rs2994940	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2994943	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2994944	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2994947	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2994953	0.94[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs2994954	0.81[CHB][hapmap]
rs3021402	0.81[CHB][hapmap]
rs41299545	0.98[ASN][1000 genomes]
rs6576713	0.81[CHB][hapmap]
rs6692765	0.86[CHB][hapmap];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:6 , 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	chr1:85052400-85053400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:85052800-85053400	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links