Variant report

Variant	rs7264375
Chromosome Location	chr20:53093618-53093619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:53082117..53084840-chr20:53092758..53094817,2	MCF-7	breast:
2	chr20:53073105..53076272-chr20:53092801..53096708,6	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6098011	0.85[YRI][hapmap]
rs6098013	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs6512963	0.84[YRI][hapmap];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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834012	chr20:52921007-53097177	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53091400-53094200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr20:53091600-53093800	Active TSS	Psoas Muscle	Psoas
3	chr20:53091600-53094000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr20:53091800-53094000	Active TSS	Right Atrium	heart
5	chr20:53091800-53094200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr20:53091800-53094200	Active TSS	Aorta	Aorta
7	chr20:53091800-53094200	Active TSS	NHLF	lung
8	chr20:53092000-53094600	Active TSS	NHDF-Ad	bronchial
9	chr20:53092000-53095000	Active TSS	Brain Angular Gyrus	brain
10	chr20:53092400-53093800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr20:53092400-53094000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
12	chr20:53092600-53094000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr20:53092600-53094000	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr20:53092800-53093800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
15	chr20:53092800-53093800	Flanking Active TSS	NH-A	brain
16	chr20:53093000-53093800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr20:53093000-53093800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr20:53093000-53093800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr20:53093000-53093800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr20:53093000-53094000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr20:53093000-53094800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:53093200-53093800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr20:53093200-53093800	Active TSS	Fetal Muscle Trunk	muscle
24	chr20:53093200-53094000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr20:53093200-53094000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr20:53093200-53094200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr20:53093200-53094800	Active TSS	Fetal Brain Male	brain
28	chr20:53093400-53093800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr20:53093400-53093800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr20:53093400-53093800	Active TSS	Ovary	ovary
31	chr20:53093400-53093800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr20:53093400-53093800	Active TSS	Osteobl	bone
33	chr20:53093400-53094000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr20:53093400-53094000	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr20:53093400-53094200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr20:53093400-53094200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:53093400-53094200	Active TSS	Brain Anterior Caudate	brain
38	chr20:53093400-53094200	Bivalent Enhancer	Fetal Lung	lung
39	chr20:53093400-53094400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr20:53093400-53096200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr20:53093400-53096400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr20:53093400-53106400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr20:53093600-53093800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr20:53093600-53093800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr20:53093600-53093800	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr20:53093600-53093800	Bivalent/Poised TSS	HUVEC	blood vessel
47	chr20:53093600-53094000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr20:53093600-53094000	Enhancers	Colon Smooth Muscle	Colon
49	chr20:53093600-53094200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:53093600-53094200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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