Variant report

Variant	rs12506593
Chromosome Location	chr4:95944385-95944386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95944007..95945865-chr4:95974454..95976433,2	MCF-7	breast:
2	chr4:95944191..95946450-chr4:96004489..96006768,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1035810	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1036352	0.87[EUR][1000 genomes]
rs1158368	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1158792	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1158793	0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13134993	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1319809	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1434546	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs17022989	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1816461	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1816463	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28392869	0.87[EUR][1000 genomes]
rs28412242	0.84[EUR][1000 genomes]
rs28419579	0.86[EUR][1000 genomes]
rs4512000	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6532530	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6816834	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6822629	0.91[EUR][1000 genomes]
rs6840826	0.85[YRI][hapmap]
rs723367	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7671545	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv879622	chr4:95917980-95984379	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12506593	BMPR1B	cis	Heart Left Ventricle	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95940800-95945200	Enhancers	A549	lung
2	chr4:95941400-95949000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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