Variant report

Variant	rs12580920
Chromosome Location	chr12:7708725-7708726
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11054604	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11054661	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11054905	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11054921	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11054936	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11054966	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11055010	1.00[AFR][1000 genomes]
rs11055012	1.00[AFR][1000 genomes]
rs11055162	1.00[AFR][1000 genomes]
rs11055216	1.00[AFR][1000 genomes]
rs11055219	1.00[AFR][1000 genomes]
rs11055221	1.00[AFR][1000 genomes]
rs11055222	1.00[AFR][1000 genomes]
rs11055223	1.00[AFR][1000 genomes]
rs11561266	1.00[AFR][1000 genomes]
rs12226972	1.00[AFR][1000 genomes]
rs12228353	1.00[AFR][1000 genomes]
rs2302516	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041155	chr12:7655137-7821891	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045650	chr12:7655137-7824995	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3405329	chr12:7656734-7712687	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7708000-7708800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:7708000-7709400	Enhancers	Osteobl	bone
3	chr12:7708000-7710800	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:7708200-7708800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:7708200-7708800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:7708200-7708800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:7708200-7708800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:7708200-7708800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:7708200-7708800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:7708200-7708800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:7708200-7708800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:7708200-7708800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:7708200-7708800	Enhancers	Fetal Heart	heart
14	chr12:7708200-7708800	Enhancers	HUVEC	blood vessel
15	chr12:7708200-7708800	Enhancers	NHDF-Ad	bronchial
16	chr12:7708200-7709200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:7708200-7710000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:7708200-7710200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:7708400-7708800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:7708400-7708800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr12:7708400-7708800	Active TSS	HSMMtube	muscle
22	chr12:7708400-7708800	Enhancers	NH-A	brain
23	chr12:7708400-7709000	Enhancers	Spleen	Spleen
24	chr12:7708400-7709200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:7708600-7708800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:7708600-7708800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:7708600-7708800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:7708600-7708800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:7708600-7711200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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