Variant report

Variant	rs7954128
Chromosome Location	chr12:44484284-44484285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11830768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11833168	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11834090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11838118	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17094072	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094187	1.00[AMR][1000 genomes]
rs17094194	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094277	1.00[AMR][1000 genomes]
rs17094314	1.00[AMR][1000 genomes]
rs17094348	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1851099	1.00[ASN][1000 genomes]
rs2062953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56973281	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59404283	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60400993	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60985254	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6582497	0.82[ASN][1000 genomes]
rs7132031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73272204	1.00[ASN][1000 genomes]
rs73272295	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73274135	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73288033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73288040	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73288071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73288083	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73290241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73290243	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73290244	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73290245	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73290254	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73290256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73290257	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7961536	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7961986	1.00[ASN][1000 genomes]
rs7977654	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522314	chr12:44471709-44487061	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	esv3502007	chr12:44480230-44487575	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3502018	chr12:44480244-44487571	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44469400-44495600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:44482800-44501000	Weak transcription	Left Ventricle	heart
3	chr12:44483000-44485800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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