Variant report

Variant	rs2043886
Chromosome Location	chr2:124905546-124905547
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	chr2:124905282..124907048-chr2:124913175..124915666,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1017462	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1036607	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11123018	0.82[JPT][hapmap]
rs11123021	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11679532	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs11679636	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs11693515	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11896523	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11896568	0.95[CEU][hapmap];0.89[CHB][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11896878	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs12467198	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12473154	0.93[JPT][hapmap]
rs12473184	0.89[JPT][hapmap]
rs12475898	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs13032868	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1347873	0.81[CHB][hapmap]
rs1347874	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs1347875	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1439134	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1439135	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs1439138	0.89[JPT][hapmap]
rs1529289	0.88[CEU][hapmap]
rs1530104	0.84[CEU][hapmap]
rs1583715	0.89[JPT][hapmap]
rs17271252	0.89[JPT][hapmap]
rs17271568	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs1866479	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs1898787	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1919839	0.92[CEU][hapmap]
rs2043885	0.87[YRI][hapmap]
rs2420441	0.89[JPT][hapmap]
rs2420559	0.92[CEU][hapmap]
rs2699365	0.88[CEU][hapmap]
rs2699367	0.84[CEU][hapmap]
rs2901197	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3902861	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs4340523	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4362567	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4452145	0.81[CHB][hapmap]
rs4456715	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4473382	0.89[JPT][hapmap]
rs6730550	0.89[JPT][hapmap]
rs7566987	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs980374	0.81[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531408	chr2:124727329-125011247	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv874989	chr2:124892592-125176030	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:124905400-124905600	Enhancers	HUES64 Cell Line	embryonic stem cell

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