Variant report

Variant	rs1184930
Chromosome Location	chr2:124988022-124988023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10496634	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs11123027	0.93[CEU][hapmap]
rs11679836	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11682281	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs11682449	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11695218	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1170602	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs1170607	0.93[CEU][hapmap];0.83[YRI][hapmap]
rs1170611	0.93[CEU][hapmap]
rs1170612	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs1170619	0.93[CEU][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1170621	0.93[CEU][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1170626	0.93[CEU][hapmap];0.83[YRI][hapmap]
rs1170630	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs1170636	0.81[EUR][1000 genomes]
rs11891838	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11899935	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs11902121	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11902656	0.86[CEU][hapmap]
rs12473278	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12473309	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12986451	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12987836	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13033123	0.86[CEU][hapmap]
rs13033298	0.84[CEU][hapmap]
rs13033474	0.86[CEU][hapmap]
rs1529298	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1529299	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17011004	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs17011031	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs17011040	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17011058	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2699359	1.00[CEU][hapmap]
rs2699360	1.00[CEU][hapmap]
rs35122611	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4848919	0.93[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4848920	0.93[CEU][hapmap]
rs56321724	0.88[EUR][1000 genomes]
rs56369586	0.88[EUR][1000 genomes]
rs57578864	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62163932	0.88[EUR][1000 genomes]
rs62163933	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62163934	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs749196	0.93[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561523	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7561939	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7571024	0.93[CEU][hapmap]
rs7584334	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7594531	0.93[CEU][hapmap]
rs7598484	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs779988	0.80[AFR][1000 genomes]

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	chr2:124987000-124988400	Weak transcription	Psoas Muscle	Psoas

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