Variant report

Variant	rs12308750
Chromosome Location	chr12:44596245-44596246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10161163	1.00[ASN][1000 genomes]
rs10161301	1.00[ASN][1000 genomes]
rs10506233	1.00[ASN][1000 genomes]
rs11182363	1.00[ASN][1000 genomes]
rs11182371	1.00[ASN][1000 genomes]
rs11182376	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182389	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182401	1.00[ASN][1000 genomes]
rs11182410	1.00[CHB][hapmap]
rs12099550	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296329	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296939	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12302578	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303163	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12303870	1.00[ASN][1000 genomes]
rs12304783	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306873	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12308508	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12308564	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309408	1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310801	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12311153	1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319385	1.00[ASN][1000 genomes]
rs12319439	1.00[ASN][1000 genomes]
rs12319776	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12320155	1.00[ASN][1000 genomes]
rs12321149	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12321287	1.00[ASN][1000 genomes]
rs1388775	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094016	1.00[ASN][1000 genomes]
rs17094227	0.83[EUR][1000 genomes]
rs28538835	0.87[ASN][1000 genomes]
rs28654762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57462004	1.00[ASN][1000 genomes]
rs58851540	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59152420	0.87[ASN][1000 genomes]
rs66993609	1.00[ASN][1000 genomes]
rs73100825	0.87[ASN][1000 genomes]
rs73100834	0.87[ASN][1000 genomes]
rs73286295	0.83[EUR][1000 genomes]
rs73286296	0.83[EUR][1000 genomes]
rs73286301	0.83[EUR][1000 genomes]
rs73288025	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288036	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288054	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288073	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288075	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288080	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288085	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288089	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288095	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290203	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290206	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290208	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290213	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290217	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290223	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290224	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290225	1.00[ASN][1000 genomes]
rs73290228	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290230	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs963095	0.87[ASN][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 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	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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