Variant report

Variant	rs59894298
Chromosome Location	chr20:25338855-25338856
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	chr20:25307435..25309771-chr20:25337246..25338964,2	MCF-7	breast:
2	chr20:25334830..25338247-chr20:25338696..25341660,3	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11087514	1.00[AMR][1000 genomes]
rs28565216	1.00[AMR][1000 genomes]
rs28714346	1.00[AMR][1000 genomes]
rs35054550	1.00[AMR][1000 genomes]
rs56964222	1.00[AMR][1000 genomes]
rs57167788	1.00[AMR][1000 genomes]
rs57273246	1.00[AMR][1000 genomes]
rs57284766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57286322	1.00[AMR][1000 genomes]
rs57365695	1.00[AMR][1000 genomes]
rs57734297	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57822703	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57918703	1.00[AMR][1000 genomes]
rs57956383	1.00[AMR][1000 genomes]
rs57974728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58167480	1.00[AMR][1000 genomes]
rs58476027	1.00[AMR][1000 genomes]
rs58577156	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58828776	1.00[AMR][1000 genomes]
rs59001189	1.00[AMR][1000 genomes]
rs59002519	1.00[AMR][1000 genomes]
rs59107453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59124158	1.00[AMR][1000 genomes]
rs59172682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59319689	1.00[AMR][1000 genomes]
rs59366271	1.00[AMR][1000 genomes]
rs59444992	1.00[AMR][1000 genomes]
rs59512557	0.83[AMR][1000 genomes]
rs59802545	1.00[AMR][1000 genomes]
rs59813927	1.00[AMR][1000 genomes]
rs59846731	1.00[AMR][1000 genomes]
rs59887855	1.00[AMR][1000 genomes]
rs60054780	1.00[AMR][1000 genomes]
rs60423719	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60505561	1.00[AMR][1000 genomes]
rs61170040	1.00[AMR][1000 genomes]
rs61416782	1.00[AMR][1000 genomes]
rs61446016	1.00[AMR][1000 genomes]
rs7261761	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7264886	1.00[AMR][1000 genomes]
rs7265940	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7266057	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7272247	1.00[AMR][1000 genomes]
rs7272899	1.00[AMR][1000 genomes]
rs8124309	0.83[AMR][1000 genomes]
rs8126155	1.00[AMR][1000 genomes]
rs9784192	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv482647	chr20:25308912-25481982	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv1056997	chr20:25316663-25492339	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv1061058	chr20:25327960-25388841	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25292600-25351600	Weak transcription	NHDF-Ad	bronchial
2	chr20:25319200-25348400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:25327400-25361400	Weak transcription	Primary T cells from cord blood	blood
4	chr20:25333600-25339200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr20:25333600-25339400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr20:25334000-25339000	Enhancers	Pancreas	Pancrea
7	chr20:25334000-25339400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:25334200-25339200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:25334200-25339400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr20:25334200-25339600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr20:25334600-25339200	Weak transcription	Esophagus	oesophagus
12	chr20:25334600-25339200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr20:25334600-25341600	Weak transcription	NHLF	lung
14	chr20:25334600-25353600	Weak transcription	Aorta	Aorta
15	chr20:25334600-25357600	Weak transcription	Fetal Muscle Leg	muscle
16	chr20:25334800-25351000	Weak transcription	Fetal Intestine Small	intestine
17	chr20:25334800-25362600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr20:25335000-25339000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr20:25335200-25339200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:25335600-25341400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr20:25335800-25341400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr20:25335800-25350200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr20:25336000-25339400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr20:25336000-25341400	Weak transcription	Fetal Lung	lung
25	chr20:25336200-25341400	Weak transcription	Primary B cells from cord blood	blood
26	chr20:25336600-25339200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr20:25336600-25339400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr20:25336600-25339400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr20:25336800-25339200	Weak transcription	HepG2	liver
30	chr20:25337000-25341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr20:25337000-25341200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr20:25337000-25341200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr20:25337000-25341200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr20:25337000-25341400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr20:25337000-25370000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr20:25337200-25339400	Enhancers	Brain Hippocampus Middle	brain
37	chr20:25337200-25341200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr20:25337200-25341400	Weak transcription	Ovary	ovary
39	chr20:25337400-25339000	Weak transcription	Dnd41	blood
40	chr20:25337400-25339600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr20:25337400-25341200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr20:25337400-25341400	Weak transcription	A549	lung
43	chr20:25337400-25341600	Weak transcription	Fetal Stomach	stomach
44	chr20:25337400-25355600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr20:25337600-25339000	Weak transcription	Lung	lung
46	chr20:25337600-25341200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr20:25337600-25341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr20:25337600-25341400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr20:25337600-25341600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr20:25337600-25345400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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