Variant report

Variant	rs309886
Chromosome Location	chr4:48299123-48299124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48289085..48290011-chr4:48298937..48299917,2	K562	blood:
2	chr4:48299110..48301166-chr4:48311658..48313371,2	K562	blood:
3	chr4:48173393..48175271-chr4:48298166..48300256,2	K562	blood:
4	chr4:48295757..48299947-chr4:48300820..48304359,4	K562	blood:
5	chr4:48294874..48299158-chr4:48300568..48304359,7	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10805167	0.81[AFR][1000 genomes]
rs12499164	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12510551	0.91[AMR][1000 genomes]
rs12640519	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12645266	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13127675	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16861281	0.82[AMR][1000 genomes]
rs1876835	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2055800	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2352595	0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2464503	0.92[YRI][hapmap];0.91[AMR][1000 genomes]
rs2704411	0.90[YRI][hapmap];0.91[AMR][1000 genomes]
rs309882	0.84[AFR][1000 genomes]
rs309888	0.89[AFR][1000 genomes]
rs309889	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309893	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309894	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309895	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs309896	0.80[AFR][1000 genomes]
rs365919	0.96[YRI][hapmap]
rs409176	0.91[ASW][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4095347	0.86[AFR][1000 genomes]
rs419804	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4235154	0.91[ASW][hapmap];0.91[AMR][1000 genomes]
rs436979	1.00[AMR][1000 genomes]
rs4478160	0.91[AMR][1000 genomes]
rs4695367	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4695368	0.89[AFR][1000 genomes]
rs6447624	0.91[ASW][hapmap];1.00[AMR][1000 genomes]
rs6819233	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7661341	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs937952	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9715362	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48297800-48299200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:48297800-48299600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:48297800-48300600	Weak transcription	Osteobl	bone
4	chr4:48298800-48299200	Weak transcription	Fetal Brain Male	brain
5	chr4:48298800-48299400	Enhancers	GM12878-XiMat	blood
6	chr4:48298800-48299800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:48298800-48301400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links