Variant report

Variant	rs7296744
Chromosome Location	chr12:122428475-122428476
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	chr12:122427530..122430747-chr12:122431781..122435522,3	MCF-7	breast:
2	chr12:122427709..122429547-chr12:122437047..122438935,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1110123	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs1177573	1.00[MEX][hapmap]
rs11829393	1.00[GIH][hapmap]
rs11830915	1.00[GIH][hapmap]
rs11832557	1.00[GIH][hapmap]
rs59281959	1.00[AMR][1000 genomes]
rs73415677	1.00[AMR][1000 genomes]
rs73415682	1.00[AMR][1000 genomes]
rs73415691	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122394000-122429800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122410000-122428600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:122412800-122430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:122413200-122428800	Weak transcription	HSMMtube	muscle
6	chr12:122415200-122434800	Weak transcription	Pancreas	Pancrea
7	chr12:122418800-122437600	Weak transcription	Spleen	Spleen
8	chr12:122419800-122429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:122422200-122429800	Weak transcription	Thymus	Thymus
10	chr12:122422800-122442600	Weak transcription	Fetal Kidney	kidney
11	chr12:122427000-122428800	Enhancers	Fetal Stomach	stomach
12	chr12:122427200-122428600	Enhancers	GM12878-XiMat	blood
13	chr12:122427600-122429800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:122427800-122428600	Enhancers	A549	lung
15	chr12:122427800-122430800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:122428000-122429400	Enhancers	Lung	lung
17	chr12:122428200-122429200	Enhancers	HepG2	liver
18	chr12:122428200-122430200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:122428200-122430800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:122428200-122430800	Enhancers	NHDF-Ad	bronchial
21	chr12:122428200-122431000	Enhancers	Fetal Thymus	thymus
22	chr12:122428200-122431000	Enhancers	HMEC	breast
23	chr12:122428400-122429800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:122428400-122430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:122428400-122430800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:122428400-122430800	Enhancers	NHEK	skin
27	chr12:122428400-122431000	Enhancers	Primary B cells from peripheral blood	blood

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