Variant report

Variant	rs2532968
Chromosome Location	chr13:50897584-50897585
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	chr13:50893025..50895334-chr13:50896388..50898768,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1149864	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs1149869	0.96[ASN][1000 genomes]
rs1269265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269275	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs17074146	0.93[ASN][1000 genomes]
rs1924374	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs2240810	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs806305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs806309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs806348	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806354	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs806356	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs806359	0.86[ASN][1000 genomes]
rs811714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9535442	0.94[ASN][1000 genomes]
rs9535444	0.94[ASN][1000 genomes]
rs9562961	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9562969	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9568394	0.89[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs9568395	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568396	0.90[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv561632	chr13:50874346-50912578	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50893400-50898200	Weak transcription	Left Ventricle	heart
2	chr13:50894600-50897600	Weak transcription	NH-A	brain
3	chr13:50894600-50897600	Weak transcription	NHEK	skin
4	chr13:50894600-50900600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:50894800-50897600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:50894800-50897600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:50894800-50897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:50895000-50897600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:50895000-50897600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:50895000-50897600	Weak transcription	HMEC	breast
11	chr13:50895000-50900200	Weak transcription	Fetal Thymus	thymus
12	chr13:50895200-50897600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:50895200-50897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:50895200-50897600	Weak transcription	Osteobl	bone
15	chr13:50895400-50897600	Weak transcription	HUVEC	blood vessel
16	chr13:50896000-50907800	Weak transcription	HepG2	liver
17	chr13:50896400-50900200	Weak transcription	Dnd41	blood
18	chr13:50897200-50898400	Enhancers	NHDF-Ad	bronchial
19	chr13:50897200-50898600	Enhancers	NHLF	lung
20	chr13:50897200-50898800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:50897400-50898400	Enhancers	Muscle Satellite Cultured Cells	--

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