Variant report

Variant	rs2081400
Chromosome Location	chr2:148597771-148597772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:148592266..148594426-chr2:148597102..148599777,3	K562	blood:
2	chr2:148493331..148496160-chr2:148597744..148600087,2	MCF-7	breast:
3	chr2:148567023..148572962-chr2:148595870..148600342,5	MCF-7	breast:
4	chr2:148594776..148598351-chr2:148600056..148602491,3	K562	blood:
5	chr2:148594776..148599311-chr2:148600451..148604588,8	K562	blood:

Variant related genes	Relation type
ENSG00000121989	Chromatin interaction
ENSG00000229143	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10171288	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10497021	0.84[ASW][hapmap]
rs10928370	1.00[MEX][hapmap]
rs1156512	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12052736	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12104985	0.82[ASW][hapmap]
rs12373797	0.89[AMR][1000 genomes]
rs12620026	1.00[MEX][hapmap]
rs12691769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1424943	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1424950	0.89[AFR][1000 genomes]
rs1465486	0.89[AFR][1000 genomes]
rs2627028	0.89[AMR][1000 genomes]
rs2627033	1.00[MEX][hapmap]
rs4972314	1.00[MEX][hapmap]
rs4972315	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972366	1.00[MEX][hapmap]
rs6711374	1.00[AMR][1000 genomes]
rs6740168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7581537	1.00[MEX][hapmap]

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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148595800-148600600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:148597000-148599800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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