Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67762520..67764368-chr12:67764796..67766674,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11176632	1.00[AMR][1000 genomes]
rs11176648	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176649	1.00[AMR][1000 genomes]
rs12301230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301290	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302524	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305775	1.00[AMR][1000 genomes]
rs12312066	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319094	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322809	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377685	1.00[AMR][1000 genomes]
rs1731770	1.00[AMR][1000 genomes]
rs17854617	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2700056	1.00[AMR][1000 genomes]
rs2700061	1.00[AMR][1000 genomes]
rs2700063	1.00[AMR][1000 genomes]
rs28545106	1.00[AMR][1000 genomes]
rs28677001	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35314758	1.00[AMR][1000 genomes]
rs6581762	1.00[AMR][1000 genomes]
rs7298233	1.00[AMR][1000 genomes]
rs7967952	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976779	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9652023	0.81[AFR][1000 genomes];1.00[AMR][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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr12:67753400-67764400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:67758200-67764000	Weak transcription	Fetal Lung	lung
3	chr12:67760400-67764400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:67760600-67770200	Weak transcription	Psoas Muscle	Psoas
5	chr12:67760800-67764400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:67761000-67764000	Weak transcription	NHLF	lung
7	chr12:67761000-67764200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:67761000-67764200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:67761000-67764600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:67762000-67771200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:67762000-67780600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:67762200-67763800	Weak transcription	Osteobl	bone
13	chr12:67762200-67764000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:67762200-67764200	Weak transcription	HSMM	muscle
15	chr12:67762400-67765200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:67762400-67771200	Weak transcription	HSMMtube	muscle
17	chr12:67763400-67764800	Enhancers	Fetal Kidney	kidney

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