Variant report

Variant	rs4340523
Chromosome Location	chr2:124871188-124871189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1017462	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1036607	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123018	0.82[JPT][hapmap]
rs11123021	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11679532	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11679636	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11693515	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11896523	0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11896568	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11896878	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs12465377	0.80[AFR][1000 genomes]
rs12467198	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12473154	0.93[JPT][hapmap]
rs12473184	0.89[JPT][hapmap]
rs12475898	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs13032868	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1347873	0.83[CHB][hapmap]
rs1347874	0.83[CHB][hapmap]
rs1347875	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1439134	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1439135	0.83[CHB][hapmap];0.89[JPT][hapmap];0.83[AFR][1000 genomes]
rs1439138	0.89[JPT][hapmap]
rs1529289	0.84[CEU][hapmap]
rs1530104	0.81[CEU][hapmap]
rs1583715	0.89[JPT][hapmap]
rs17271252	0.89[JPT][hapmap]
rs17271568	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs1866479	0.83[CHB][hapmap];0.89[JPT][hapmap];0.83[AFR][1000 genomes]
rs1898787	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1919839	0.88[CEU][hapmap]
rs2043885	0.82[CEU][hapmap];0.87[YRI][hapmap]
rs2043886	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]
rs2420441	0.89[JPT][hapmap]
rs2420559	0.88[CEU][hapmap]
rs2699365	0.84[CEU][hapmap]
rs2699367	0.81[CEU][hapmap]
rs2901197	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3902861	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs4362567	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4452145	0.83[CHB][hapmap]
rs4456715	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4473382	0.89[JPT][hapmap]
rs4588195	0.83[AFR][1000 genomes]
rs6730550	0.89[JPT][hapmap]
rs7566987	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs980374	0.83[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:124870400-124871200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:124870400-124876400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:124870600-124873800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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