Variant report

Variant	rs7976293
Chromosome Location	chr12:45411225-45411226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10785536	1.00[JPT][hapmap]
rs10785537	1.00[JPT][hapmap]
rs11182756	0.82[AMR][1000 genomes]
rs11182799	0.82[AMR][1000 genomes]
rs11182800	0.83[AMR][1000 genomes]
rs11182802	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11830299	0.83[AMR][1000 genomes]
rs11836961	0.90[EUR][1000 genomes]
rs11837935	0.90[EUR][1000 genomes]
rs12306208	0.97[ASN][1000 genomes]
rs12313452	0.90[EUR][1000 genomes]
rs1395397	1.00[JPT][hapmap]
rs1495041	0.90[EUR][1000 genomes]
rs17095127	1.00[JPT][hapmap]
rs17095327	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17095370	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17095379	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17095386	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1857927	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs2055675	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2055676	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2055677	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2160987	0.81[EUR][1000 genomes]
rs2408083	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs2710453	1.00[JPT][hapmap]
rs2710455	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2710460	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs35139683	0.97[ASN][1000 genomes]
rs35531664	0.97[ASN][1000 genomes]
rs364282	0.85[AMR][1000 genomes]
rs3803173	0.83[ASN][1000 genomes]
rs4415832	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs57765913	0.81[AMR][1000 genomes]
rs59211662	0.90[EUR][1000 genomes]
rs59431125	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7138268	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303544	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7314773	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73275543	0.92[AMR][1000 genomes]
rs73275548	0.90[AMR][1000 genomes]
rs74080428	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7957052	1.00[JPT][hapmap]
rs7957160	1.00[JPT][hapmap]
rs7960817	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs978696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45393000-45412600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:45410400-45413600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:45410800-45412400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:45411000-45411400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:45411000-45411600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:45411200-45411600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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