Variant report

Variant	rs12312374
Chromosome Location	chr12:47314182-47314183
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	chr12:47313525..47315405-chr12:47315473..47318224,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11183659	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12099637	1.00[ASN][1000 genomes]
rs2715771	0.97[ASN][1000 genomes]
rs4768766	1.00[ASN][1000 genomes]
rs7305185	1.00[ASN][1000 genomes]
rs7309705	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73286069	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73286093	0.94[ASN][1000 genomes]
rs74082948	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47309200-47314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:47311000-47315800	Weak transcription	Placenta	Placenta
3	chr12:47311200-47314800	Weak transcription	Fetal Stomach	stomach
4	chr12:47311400-47314800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:47311400-47315000	Weak transcription	Osteobl	bone
6	chr12:47311600-47315000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:47311600-47315000	Weak transcription	HMEC	breast
8	chr12:47311800-47314800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:47313200-47315000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:47313200-47316200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:47313200-47316400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:47313400-47316200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:47313400-47316400	Enhancers	NHLF	lung
14	chr12:47313600-47316400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:47313800-47315000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:47314000-47314800	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:47314000-47315000	Weak transcription	Fetal Lung	lung
18	chr12:47314000-47315200	Weak transcription	HSMM	muscle
19	chr12:47314000-47315400	Weak transcription	HSMMtube	muscle
20	chr12:47314000-47316000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:47314000-47316200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:47314000-47316200	Enhancers	NHDF-Ad	bronchial

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