Variant report

Variant	rs6512962
Chromosome Location	chr20:53093029-53093030
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: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16999812	1.00[MEX][hapmap]
rs6014062	1.00[MEX][hapmap]
rs6014086	1.00[MEX][hapmap]
rs6098050	1.00[MEX][hapmap]
rs6098052	1.00[MEX][hapmap]
rs6098058	1.00[MEX][hapmap]
rs6098076	1.00[MEX][hapmap]
rs6098078	1.00[MEX][hapmap]
rs6098079	1.00[MEX][hapmap]
rs6098081	1.00[MEX][hapmap]
rs7270950	1.00[MEX][hapmap]

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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53091000-53093200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr20:53091000-53093200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr20:53091000-53093600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr20:53091400-53093200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr20:53091400-53093200	Active TSS	Colon Smooth Muscle	Colon
6	chr20:53091400-53093200	Active TSS	Fetal Kidney	kidney
7	chr20:53091400-53093400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:53091400-53094200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:53091600-53093200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr20:53091600-53093200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr20:53091600-53093200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:53091600-53093600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:53091600-53093600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr20:53091600-53093600	Active TSS	Right Ventricle	heart
15	chr20:53091600-53093800	Active TSS	Psoas Muscle	Psoas
16	chr20:53091600-53094000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr20:53091800-53093200	Active TSS	Placenta Amnion	Placenta Amnion
18	chr20:53091800-53093400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:53091800-53093400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr20:53091800-53093400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr20:53091800-53093400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
22	chr20:53091800-53093600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr20:53091800-53094000	Active TSS	Right Atrium	heart
24	chr20:53091800-53094200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr20:53091800-53094200	Active TSS	Aorta	Aorta
26	chr20:53091800-53094200	Active TSS	NHLF	lung
27	chr20:53092000-53093200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr20:53092000-53093200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr20:53092000-53093400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
30	chr20:53092000-53093400	Bivalent Enhancer	Spleen	Spleen
31	chr20:53092000-53093600	Bivalent/Poised TSS	HSMMtube	muscle
32	chr20:53092000-53094600	Active TSS	NHDF-Ad	bronchial
33	chr20:53092000-53095000	Active TSS	Brain Angular Gyrus	brain
34	chr20:53092200-53093200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr20:53092200-53093200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr20:53092200-53093400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
37	chr20:53092200-53093400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr20:53092400-53093200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr20:53092400-53093200	Flanking Bivalent TSS/Enh	Placenta	Placenta
40	chr20:53092400-53093200	Active TSS	Gastric	stomach
41	chr20:53092400-53093200	Bivalent Enhancer	Lung	lung
42	chr20:53092400-53093600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr20:53092400-53093800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
44	chr20:53092400-53094000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
45	chr20:53092600-53093200	Bivalent Enhancer	Liver	Liver
46	chr20:53092600-53093200	Flanking Active TSS	Fetal Brain Male	brain
47	chr20:53092600-53093400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:53092600-53093400	Bivalent Enhancer	Fetal Heart	heart
49	chr20:53092600-53093400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
50	chr20:53092600-53093600	Bivalent/Poised TSS	Brain Substantia Nigra	brain

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