Variant report

Variant	rs4130732
Chromosome Location	chr2:47022533-47022534
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	chr2:46926377..46928977-chr2:47022030..47023631,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1009230	0.85[YRI][hapmap]
rs1009231	0.83[YRI][hapmap]
rs10168342	0.83[YRI][hapmap]
rs1456009	0.83[YRI][hapmap]
rs2346879	0.90[ASN][1000 genomes]
rs2346880	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2346881	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4123496	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4123497	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4522653	0.83[YRI][hapmap]
rs4611687	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4952848	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4952849	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4952850	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4953420	0.84[AMR][1000 genomes]
rs4953421	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4953422	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6544924	0.85[AMR][1000 genomes]
rs6714451	0.86[AMR][1000 genomes]
rs6718658	0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6725880	0.86[AMR][1000 genomes]
rs6737934	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6746471	0.83[YRI][hapmap]
rs6748938	0.83[YRI][hapmap]
rs7568137	0.88[AMR][1000 genomes]
rs7576833	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7577004	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7579692	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7606976	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs897528	0.83[YRI][hapmap]

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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47009800-47025200	Weak transcription	Right Ventricle	heart
2	chr2:47019400-47029200	Weak transcription	Aorta	Aorta
3	chr2:47021400-47032600	Weak transcription	Pancreas	Pancrea
4	chr2:47021800-47027400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:47022200-47022800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:47022200-47022800	Enhancers	HMEC	breast
7	chr2:47022200-47022800	Enhancers	NHEK	skin
8	chr2:47022200-47026400	Enhancers	NHDF-Ad	bronchial
9	chr2:47022200-47031000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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