Variant report

Variant	rs6023271
Chromosome Location	chr20:53091687-53091688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:53091628-53092535	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr20:53091292-53091698	H1-hESC	embryonic stem cell:	n/a	chr20:53091493-53091501 chr20:53091489-53091501
3	SIN3A	chr20:53091667-53093479	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr20:53091463-53093145	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr20:53091375-53091689	H1-hESC	embryonic stem cell:	n/a	chr20:53091493-53091501 chr20:53091489-53091501
6	E2F6	chr20:53091338-53091910	H1-hESC	embryonic stem cell:	n/a	chr20:53091811-53091820 chr20:53091824-53091834
7	TEAD4	chr20:53091437-53091761	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:53066844..53069030-chr20:53089773..53091908,2	MCF-7	breast:

Variant related genes	Relation type
DOK5	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1477739	1.00[EUR][1000 genomes]
rs16999399	1.00[EUR][1000 genomes]
rs16999732	1.00[EUR][1000 genomes]
rs2219732	1.00[EUR][1000 genomes]
rs2426520	1.00[EUR][1000 genomes]
rs2426521	1.00[EUR][1000 genomes]
rs2616329	1.00[EUR][1000 genomes]
rs2616331	1.00[EUR][1000 genomes]
rs2616334	1.00[EUR][1000 genomes]
rs2616337	1.00[EUR][1000 genomes]
rs2797969	1.00[EUR][1000 genomes]
rs56977264	1.00[EUR][1000 genomes]
rs57927391	1.00[EUR][1000 genomes]
rs6014025	1.00[EUR][1000 genomes]
rs60215168	1.00[EUR][1000 genomes]
rs6023260	1.00[EUR][1000 genomes]
rs6091884	1.00[EUR][1000 genomes]
rs6091909	1.00[EUR][1000 genomes]
rs6097991	1.00[EUR][1000 genomes]
rs6097995	1.00[EUR][1000 genomes]
rs61495423	1.00[EUR][1000 genomes]
rs62214388	1.00[EUR][1000 genomes]
rs793039	1.00[EUR][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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53084800-53091800	Weak transcription	Aorta	Aorta
2	chr20:53091000-53093200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr20:53091000-53093200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr20:53091000-53093600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr20:53091200-53091800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr20:53091400-53091800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr20:53091400-53091800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr20:53091400-53091800	Enhancers	Right Atrium	heart
9	chr20:53091400-53091800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr20:53091400-53092000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:53091400-53092400	Enhancers	Fetal Brain Male	brain
12	chr20:53091400-53092800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr20:53091400-53093000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr20:53091400-53093000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr20:53091400-53093000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:53091400-53093200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr20:53091400-53093200	Active TSS	Colon Smooth Muscle	Colon
18	chr20:53091400-53093200	Active TSS	Fetal Kidney	kidney
19	chr20:53091400-53093400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr20:53091400-53094200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:53091600-53091800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr20:53091600-53091800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr20:53091600-53091800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:53091600-53091800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr20:53091600-53091800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr20:53091600-53091800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr20:53091600-53091800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr20:53091600-53091800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr20:53091600-53091800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr20:53091600-53091800	Flanking Active TSS	Fetal Brain Female	brain
31	chr20:53091600-53091800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr20:53091600-53091800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr20:53091600-53091800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
34	chr20:53091600-53092000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr20:53091600-53092000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:53091600-53092000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr20:53091600-53092000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:53091600-53092000	Enhancers	Gastric	stomach
39	chr20:53091600-53092200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr20:53091600-53092400	Active TSS	Brain Cingulate Gyrus	brain
41	chr20:53091600-53092400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr20:53091600-53092600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:53091600-53092600	Active TSS	Brain Germinal Matrix	brain
44	chr20:53091600-53092600	Active TSS	Brain Substantia Nigra	brain
45	chr20:53091600-53092800	Active TSS	Brain Anterior Caudate	brain
46	chr20:53091600-53092800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
47	chr20:53091600-53092800	Active TSS	Fetal Lung	lung
48	chr20:53091600-53092800	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr20:53091600-53092800	Active TSS	Ovary	ovary
50	chr20:53091600-53092800	Active TSS	Rectal Smooth Muscle	rectum

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