Variant report

Variant	rs7312611
Chromosome Location	chr12:39928746-39928747
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	chr12:39836470..39838324-chr12:39927543..39930505,2	MCF-7	breast:
2	chr12:39926553..39928856-chr12:39931123..39933872,2	K562	blood:

Variant related genes	Relation type
ENSG00000270273	Chromatin interaction
ENSG00000139116	Chromatin interaction
ENSG00000252974	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10877173	0.90[JPT][hapmap]
rs10877201	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11172144	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11172162	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11172687	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11172713	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11172722	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11172794	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11172848	0.90[JPT][hapmap]
rs11172897	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs12227286	0.90[JPT][hapmap]
rs12227668	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12228013	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12228617	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1512941	0.90[JPT][hapmap]
rs17127070	0.90[JPT][hapmap]
rs17127094	0.80[JPT][hapmap]
rs17127129	0.90[JPT][hapmap]
rs17127138	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs2292491	0.90[JPT][hapmap]
rs4072006	0.88[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap]
rs4294600	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6581228	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7133376	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7308138	0.90[JPT][hapmap]
rs7309234	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs7310178	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7966841	0.90[JPT][hapmap]
rs7976275	0.90[JPT][hapmap]
rs7980595	0.90[JPT][hapmap]

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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1048933	chr12:39886665-39946270	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1039645	chr12:39903123-40022029	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1381527	chr12:39928745-39928753	Weak transcription	Chromatin interactive region	3 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	chr12:39926000-39934600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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