Variant report

Variant	rs12476530
Chromosome Location	chr2:50303700-50303701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10490240	0.84[CHB][hapmap]
rs10490241	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10490243	0.89[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap]
rs10490244	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11125285	0.84[ASN][1000 genomes]
rs11125290	0.81[CHB][hapmap]
rs11125291	0.82[CHB][hapmap]
rs11125294	0.82[CHB][hapmap]
rs11125295	0.86[CHB][hapmap]
rs11125296	0.86[CHB][hapmap]
rs11896556	0.81[CHB][hapmap]
rs12468252	0.82[CHB][hapmap]
rs12468477	0.81[CHB][hapmap]
rs12470002	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs12470518	0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs12472712	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs12472743	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12473119	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12474335	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12475100	0.91[CHB][hapmap]
rs12476825	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs12477934	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12478603	0.90[CEU][hapmap]
rs12478732	0.95[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs12613363	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12622844	0.81[CHB][hapmap]
rs12622858	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs12986904	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1377233	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1377237	1.00[CEU][hapmap]
rs1377238	0.80[CHB][hapmap]
rs1421573	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs1452766	0.86[EUR][1000 genomes]
rs1452767	0.86[EUR][1000 genomes]
rs1452768	0.85[EUR][1000 genomes]
rs1452769	0.84[CHB][hapmap]
rs1452771	0.86[CHB][hapmap]
rs1452773	0.90[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1452778	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1452779	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1452780	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1452781	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1452783	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1563020	0.82[CHB][hapmap]
rs1563024	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1563026	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1563027	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1563028	0.85[CHB][hapmap]
rs1584763	0.81[CHB][hapmap]
rs17039764	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17039801	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17039807	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17039932	0.81[CHB][hapmap]
rs17039940	0.81[CHB][hapmap]
rs17039947	0.85[CHB][hapmap]
rs17039976	0.86[CHB][hapmap]
rs17039979	0.85[CHB][hapmap]
rs17039985	0.82[CHB][hapmap]
rs17040013	0.82[CHB][hapmap]
rs17040034	0.95[CHB][hapmap]
rs17040064	0.95[CHB][hapmap]
rs17040090	0.81[CHB][hapmap]
rs17040117	0.80[CHB][hapmap]
rs17040123	0.81[CHB][hapmap]
rs17040210	0.84[CEU][hapmap]
rs1961358	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2011317	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2045003	1.00[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2123388	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2218979	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs4032305	0.84[AMR][1000 genomes]
rs4641977	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4971552	0.86[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4971554	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4971646	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4971648	0.95[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs4971650	0.82[CHB][hapmap]
rs4971652	0.86[CHB][hapmap]
rs4971653	0.86[CHB][hapmap]
rs4971655	0.81[CHB][hapmap]
rs6545149	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6545155	0.90[CEU][hapmap]
rs6712102	0.81[CHB][hapmap]
rs6712119	0.80[CHB][hapmap]
rs6712423	0.84[CHB][hapmap]
rs6716404	0.81[CHB][hapmap]
rs6731397	0.95[CHB][hapmap]
rs72874683	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72874698	0.83[ASN][1000 genomes]
rs72878120	0.81[EUR][1000 genomes]
rs72878122	0.81[EUR][1000 genomes]
rs7590544	0.81[CHB][hapmap]
rs7607863	0.82[CHB][hapmap]
rs896683	0.95[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs896684	0.95[CEU][hapmap];0.82[CHB][hapmap]
rs921572	0.81[CEU][hapmap]
rs921573	0.81[CEU][hapmap]
rs930752	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs962332	1.00[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962333	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970896	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 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	chr2:50300000-50304200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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