Variant report

Variant	rs1882281
Chromosome Location	chr12:67850140-67850141
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	chr12:67849296..67851766-chr12:68042448..68044741,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1317854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921001	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2870933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2870934	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35351458	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960669	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67844600-67851600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67845400-67850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:67845800-67850400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:67846000-67850200	Weak transcription	Liver	Liver
5	chr12:67847200-67851400	Weak transcription	Right Atrium	heart
6	chr12:67847400-67850200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:67847600-67850200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:67849000-67852000	Enhancers	Fetal Heart	heart
9	chr12:67849200-67850200	Weak transcription	Ovary	ovary
10	chr12:67849200-67852200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:67849400-67850200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:67849400-67850400	Weak transcription	Left Ventricle	heart
13	chr12:67849400-67851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:67849400-67851400	Weak transcription	Right Ventricle	heart
15	chr12:67849600-67851400	Enhancers	Adipose Nuclei	Adipose
16	chr12:67849800-67853800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:67850000-67850200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:67850000-67850200	Enhancers	Stomach Smooth Muscle	stomach
19	chr12:67850000-67850600	Enhancers	Fetal Brain Male	brain
20	chr12:67850000-67851000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr12:67850000-67851400	Enhancers	NHLF	lung
22	chr12:67850000-67852000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:67850000-67852000	Enhancers	Fetal Lung	lung
24	chr12:67850000-67852200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:67850000-67852200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:67850000-67852400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:67850000-67852600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:67850000-67853200	Enhancers	Rectal Smooth Muscle	rectum

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