Variant report

Variant	rs7487759
Chromosome Location	chr12:66438610-66438611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66437753..66439837-chr12:66442785..66444441,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10506476	1.00[EUR][1000 genomes]
rs10506477	1.00[EUR][1000 genomes]
rs1058981	1.00[EUR][1000 genomes]
rs11176027	1.00[EUR][1000 genomes]
rs1152905	1.00[EUR][1000 genomes]
rs1152910	1.00[EUR][1000 genomes]
rs1168738	1.00[EUR][1000 genomes]
rs1168740	1.00[EUR][1000 genomes]
rs1168741	1.00[EUR][1000 genomes]
rs1168746	1.00[EUR][1000 genomes]
rs1168764	1.00[EUR][1000 genomes]
rs1168767	1.00[EUR][1000 genomes]
rs1168773	1.00[EUR][1000 genomes]
rs1179916	1.00[EUR][1000 genomes]
rs12099497	1.00[EUR][1000 genomes]
rs1617632	1.00[EUR][1000 genomes]
rs17102069	1.00[EUR][1000 genomes]
rs17102109	1.00[EUR][1000 genomes]
rs17102115	1.00[EUR][1000 genomes]
rs1797400	1.00[EUR][1000 genomes]
rs1946750	1.00[EUR][1000 genomes]
rs6581665	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7307987	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899213	chr12:66389968-66500036	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832446	chr12:66393863-66501484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66436600-66442400	Weak transcription	Ovary	ovary
2	chr12:66437200-66439000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:66437600-66441600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:66437600-66443600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:66438000-66438800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:66438000-66439000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:66438000-66439000	Enhancers	HMEC	breast
8	chr12:66438000-66439200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:66438000-66439200	Enhancers	NHEK	skin
10	chr12:66438000-66443200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:66438200-66439000	Enhancers	NH-A	brain
12	chr12:66438200-66439000	Enhancers	NHDF-Ad	bronchial
13	chr12:66438200-66439200	Enhancers	Osteobl	bone
14	chr12:66438600-66438800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:66438600-66439000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:66438600-66439000	Flanking Active TSS	HepG2	liver
17	chr12:66438600-66440600	ZNF genes & repeats	GM12878-XiMat	blood

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