Variant report

Variant	rs11182443
Chromosome Location	chr12:44620894-44620895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10047523	1.00[JPT][hapmap]
rs1032886	1.00[JPT][hapmap]
rs10880623	1.00[JPT][hapmap]
rs11182423	1.00[JPT][hapmap]
rs11182430	1.00[JPT][hapmap]
rs11182432	1.00[JPT][hapmap]
rs11182449	1.00[JPT][hapmap]
rs11182453	1.00[JPT][hapmap]
rs11182455	0.89[JPT][hapmap]
rs1155808	1.00[JPT][hapmap]
rs11612946	1.00[JPT][hapmap]
rs11615473	1.00[JPT][hapmap]
rs1168078	1.00[JPT][hapmap]
rs11830768	1.00[EUR][1000 genomes]
rs11832219	1.00[JPT][hapmap]
rs11832859	1.00[JPT][hapmap]
rs11833168	1.00[EUR][1000 genomes]
rs11834090	1.00[EUR][1000 genomes]
rs11835507	1.00[JPT][hapmap]
rs11838118	1.00[EUR][1000 genomes]
rs12297689	1.00[JPT][hapmap]
rs12297933	1.00[JPT][hapmap]
rs12299030	1.00[JPT][hapmap]
rs12300793	1.00[JPT][hapmap]
rs12307454	1.00[JPT][hapmap]
rs12307560	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12308569	1.00[JPT][hapmap]
rs12309639	1.00[JPT][hapmap]
rs1643429	1.00[JPT][hapmap]
rs1643431	1.00[JPT][hapmap]
rs17094072	1.00[EUR][1000 genomes]
rs17094092	1.00[JPT][hapmap]
rs17094136	1.00[EUR][1000 genomes]
rs17094183	1.00[JPT][hapmap]
rs17094194	1.00[EUR][1000 genomes]
rs17094227	0.94[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes]
rs17094231	1.00[JPT][hapmap]
rs17094235	1.00[JPT][hapmap]
rs17094344	1.00[JPT][hapmap]
rs17094348	1.00[EUR][1000 genomes]
rs17121310	1.00[JPT][hapmap]
rs2032782	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2062952	1.00[JPT][hapmap]
rs2062953	1.00[EUR][1000 genomes]
rs2112147	1.00[JPT][hapmap]
rs2638853	1.00[JPT][hapmap]
rs2638855	1.00[JPT][hapmap]
rs56973281	1.00[EUR][1000 genomes]
rs59404283	1.00[EUR][1000 genomes]
rs60400993	1.00[EUR][1000 genomes]
rs60985254	1.00[EUR][1000 genomes]
rs7132031	1.00[EUR][1000 genomes]
rs7137469	1.00[JPT][hapmap]
rs7295281	1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7305976	1.00[JPT][hapmap]
rs7306647	1.00[JPT][hapmap]
rs7315208	1.00[JPT][hapmap]
rs7316737	1.00[JPT][hapmap]
rs73272204	1.00[EUR][1000 genomes]
rs73272217	1.00[EUR][1000 genomes]
rs73272267	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73272295	1.00[EUR][1000 genomes]
rs73274135	1.00[EUR][1000 genomes]
rs73288033	1.00[EUR][1000 genomes]
rs73288071	1.00[EUR][1000 genomes]
rs73288083	1.00[EUR][1000 genomes]
rs73290241	1.00[EUR][1000 genomes]
rs73290243	1.00[EUR][1000 genomes]
rs73290244	1.00[EUR][1000 genomes]
rs73290245	1.00[EUR][1000 genomes]
rs73290256	1.00[EUR][1000 genomes]
rs73290257	1.00[EUR][1000 genomes]
rs7961536	1.00[EUR][1000 genomes]
rs7961974	1.00[JPT][hapmap]
rs7961986	1.00[EUR][1000 genomes]
rs7969885	1.00[JPT][hapmap]
rs7976652	1.00[JPT][hapmap]
rs7977482	1.00[JPT][hapmap]
rs7977539	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44612000-44655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44620000-44621000	Weak transcription	Fetal Brain Male	brain
3	chr12:44620400-44621200	Enhancers	Left Ventricle	heart
4	chr12:44620600-44622000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44620800-44621800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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