Variant report

Variant	rs59107453
Chromosome Location	chr20:25298634-25298635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11087514	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35054550	1.00[AMR][1000 genomes]
rs56964222	1.00[AMR][1000 genomes]
rs57167788	1.00[AMR][1000 genomes]
rs57273246	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57284766	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57286322	1.00[AMR][1000 genomes]
rs57365695	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57734297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57822703	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57918703	1.00[AMR][1000 genomes]
rs57956383	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57974728	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58577156	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58828776	1.00[AMR][1000 genomes]
rs59001189	1.00[AMR][1000 genomes]
rs59002519	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59172682	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59319689	1.00[AMR][1000 genomes]
rs59512557	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59802545	1.00[AMR][1000 genomes]
rs59846731	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59887855	1.00[AMR][1000 genomes]
rs59894298	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60054780	1.00[AMR][1000 genomes]
rs60423719	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60505561	1.00[AMR][1000 genomes]
rs61170040	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61416782	1.00[AMR][1000 genomes]
rs61446016	1.00[AMR][1000 genomes]
rs7261761	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7264886	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7265940	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7266057	0.88[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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9784192	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	esv1798601	chr20:25250122-25305949	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25256000-25299400	Weak transcription	Fetal Brain Male	brain
2	chr20:25278800-25305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:25284600-25304000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:25289200-25304600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr20:25289400-25302400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr20:25289800-25299400	Weak transcription	Brain Germinal Matrix	brain
7	chr20:25290800-25300200	Weak transcription	Fetal Lung	lung
8	chr20:25292000-25299600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr20:25292000-25310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:25292000-25325200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr20:25292000-25327400	Weak transcription	Aorta	Aorta
12	chr20:25292200-25299600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr20:25292200-25303600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:25292200-25303800	Weak transcription	HUVEC	blood vessel
15	chr20:25292200-25305600	Weak transcription	Hela-S3	cervix
16	chr20:25292200-25309600	Weak transcription	Psoas Muscle	Psoas
17	chr20:25292200-25316600	Weak transcription	NHEK	skin
18	chr20:25292400-25299000	Weak transcription	Brain Angular Gyrus	brain
19	chr20:25292400-25299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr20:25292400-25299600	Weak transcription	Brain Anterior Caudate	brain
21	chr20:25292400-25299600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr20:25292400-25299600	Weak transcription	Left Ventricle	heart
23	chr20:25292400-25300200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr20:25292400-25300600	Weak transcription	Ovary	ovary
25	chr20:25292400-25302400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr20:25292400-25303600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr20:25292400-25308400	Weak transcription	HSMMtube	muscle
28	chr20:25292400-25308600	Weak transcription	HSMM	muscle
29	chr20:25292400-25311200	Weak transcription	K562	blood
30	chr20:25292400-25325200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr20:25292600-25299600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr20:25292600-25299600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr20:25292600-25309000	Weak transcription	Colon Smooth Muscle	Colon
34	chr20:25292600-25351600	Weak transcription	NHDF-Ad	bronchial
35	chr20:25294000-25304200	Strong transcription	Fetal Intestine Large	intestine
36	chr20:25294200-25301800	Strong transcription	Fetal Stomach	stomach
37	chr20:25294400-25306400	Strong transcription	Dnd41	blood
38	chr20:25294600-25298800	Strong transcription	Fetal Intestine Small	intestine
39	chr20:25294600-25299200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr20:25294600-25302200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr20:25295200-25298800	Strong transcription	HepG2	liver
42	chr20:25295400-25300400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr20:25295600-25299000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr20:25295600-25299400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:25295600-25304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr20:25295800-25300600	Weak transcription	Liver	Liver
47	chr20:25295800-25300800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr20:25296000-25301600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr20:25296200-25300600	Weak transcription	Lung	lung
50	chr20:25296400-25306000	Weak transcription	Rectal Smooth Muscle	rectum

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