Variant report

Variant	rs12582800
Chromosome Location	chr12:104271055-104271056
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104270364..104272827-chr12:104323882..104326173,2	K562	blood:
2	chr12:104266210..104269616-chr12:104269671..104272994,4	K562	blood:

Variant related genes	Relation type
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000265072	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10778306	0.87[JPT][hapmap]
rs11111845	0.87[JPT][hapmap]
rs11612613	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs12426161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12426183	0.97[EUR][1000 genomes]
rs12426202	1.00[EUR][1000 genomes]
rs12426220	0.92[EUR][1000 genomes]
rs12427041	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12580474	0.92[ASN][1000 genomes]
rs12582917	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs17034880	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17034911	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17034914	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17034946	1.00[AFR][1000 genomes]
rs17180749	0.94[CEU][hapmap];1.00[EUR][1000 genomes]
rs17795280	1.00[EUR][1000 genomes]
rs17795947	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1882019	1.00[AFR][1000 genomes]
rs2576942	0.87[JPT][hapmap]
rs2722189	0.87[JPT][hapmap]
rs35193500	0.90[EUR][1000 genomes]
rs3751207	1.00[AFR][1000 genomes]
rs3751208	1.00[AFR][1000 genomes]
rs3829300	1.00[AFR][1000 genomes]
rs4135060	1.00[AFR][1000 genomes]
rs4135076	1.00[AFR][1000 genomes]
rs4135078	1.00[AFR][1000 genomes]
rs4135082	1.00[AFR][1000 genomes]
rs4135085	1.00[AFR][1000 genomes]
rs4135086	1.00[AFR][1000 genomes]
rs4135087	1.00[AFR][1000 genomes]
rs4135094	1.00[AFR][1000 genomes]
rs4135095	1.00[AFR][1000 genomes]
rs55919036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56040534	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56158534	0.86[ASN][1000 genomes]
rs59879726	0.97[ASN][1000 genomes]
rs60534873	1.00[AFR][1000 genomes]
rs6615	0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs728167	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788014	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9788136	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104254800-104278200	Weak transcription	Aorta	Aorta
2	chr12:104270000-104272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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