Variant report

Variant	rs309889
Chromosome Location	chr4:48302763-48302764
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:44726785..44729240-chr4:48300600..48303323,2	MCF-7	breast:
2	chr4:48294874..48299158-chr4:48300568..48304359,7	K562	blood:
3	chr4:48295757..48299947-chr4:48300820..48304359,4	K562	blood:

Variant related genes	Relation type
ENSG00000163281	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12499164	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12510551	0.91[AMR][1000 genomes]
rs12640519	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12645266	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13127675	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16861281	0.82[AMR][1000 genomes]
rs1876835	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2055800	0.91[AMR][1000 genomes]
rs2352595	0.91[AMR][1000 genomes]
rs2464503	0.91[AMR][1000 genomes]
rs2704411	0.91[AMR][1000 genomes]
rs309882	0.92[AFR][1000 genomes]
rs309886	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309888	0.98[AFR][1000 genomes]
rs309893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309894	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309895	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309896	0.89[AFR][1000 genomes]
rs409176	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs419804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4235154	0.91[AMR][1000 genomes]
rs436979	1.00[AMR][1000 genomes]
rs4478160	0.91[AMR][1000 genomes]
rs4695367	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4695368	0.80[AFR][1000 genomes]
rs6447624	1.00[AMR][1000 genomes]
rs6819233	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7661341	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs937952	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9715362	0.93[AFR][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	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv967292	chr4:48301224-48303037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48300400-48309800	Weak transcription	Fetal Brain Male	brain
2	chr4:48301400-48302800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:48302000-48303000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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