Variant report

Variant	rs59431257
Chromosome Location	chr20:25304558-25304559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs12106059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12106164	1.00[EUR][1000 genomes]
rs12373881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2500428	1.00[EUR][1000 genomes]
rs28435893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28439563	1.00[EUR][1000 genomes]
rs28551104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28733778	1.00[EUR][1000 genomes]
rs35073849	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56795563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57237389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57293656	1.00[EUR][1000 genomes]
rs57522322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579912	1.00[EUR][1000 genomes]
rs58189090	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58410604	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58593226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58709664	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58722006	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58953621	1.00[AMR][1000 genomes]
rs58957358	1.00[EUR][1000 genomes]
rs59362331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59857017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60459445	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60479943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6050367	1.00[EUR][1000 genomes]
rs60758360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60772859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60831246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60834749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60893899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7264066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7267807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7270324	1.00[AMR][1000 genomes]
rs7274585	1.00[AMR][1000 genomes]
rs73331819	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331822	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331824	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333566	1.00[EUR][1000 genomes]
rs73333583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335306	1.00[AMR][1000 genomes]
rs73335318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335323	1.00[AMR][1000 genomes]
rs73335329	1.00[EUR][1000 genomes]
rs73335331	1.00[EUR][1000 genomes]
rs73335348	1.00[EUR][1000 genomes]
rs73335353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335375	1.00[EUR][1000 genomes]
rs73337199	1.00[EUR][1000 genomes]
rs73339096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341120	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341122	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341124	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341128	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341131	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341135	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341140	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341143	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341155	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341157	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343076	1.00[AMR][1000 genomes]
rs73343090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345069	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345071	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345073	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345082	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347016	1.00[AMR][1000 genomes]
rs73347023	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347042	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347058	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347066	1.00[AMR][1000 genomes]
rs8115188	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8117413	1.00[AMR][1000 genomes]
rs8118017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8119273	1.00[EUR][1000 genomes]
rs8120601	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8121557	1.00[EUR][1000 genomes]
rs8123947	1.00[AMR][1000 genomes]
rs9967947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25278800-25305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:25289200-25304600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr20:25292000-25310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:25292000-25325200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr20:25292000-25327400	Weak transcription	Aorta	Aorta
6	chr20:25292200-25305600	Weak transcription	Hela-S3	cervix
7	chr20:25292200-25309600	Weak transcription	Psoas Muscle	Psoas
8	chr20:25292200-25316600	Weak transcription	NHEK	skin
9	chr20:25292400-25308400	Weak transcription	HSMMtube	muscle
10	chr20:25292400-25308600	Weak transcription	HSMM	muscle
11	chr20:25292400-25311200	Weak transcription	K562	blood
12	chr20:25292400-25325200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr20:25292600-25309000	Weak transcription	Colon Smooth Muscle	Colon
14	chr20:25292600-25351600	Weak transcription	NHDF-Ad	bronchial
15	chr20:25294400-25306400	Strong transcription	Dnd41	blood
16	chr20:25295600-25304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr20:25296400-25306000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr20:25296600-25310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr20:25296800-25305400	Weak transcription	HMEC	breast
20	chr20:25296800-25308200	Weak transcription	NH-A	brain
21	chr20:25296800-25308800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr20:25296800-25316600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:25297800-25317800	Weak transcription	Fetal Brain Female	brain
24	chr20:25298000-25306000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr20:25299400-25304800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:25299600-25304600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr20:25299600-25305000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr20:25299800-25306400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr20:25300000-25304800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr20:25300000-25306200	Strong transcription	Thymus	Thymus
31	chr20:25300400-25304800	Weak transcription	Primary B cells from cord blood	blood
32	chr20:25300400-25304800	Strong transcription	NHLF	lung
33	chr20:25300600-25304800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr20:25300600-25305000	Strong transcription	Primary T cells from cord blood	blood
35	chr20:25301000-25306800	Weak transcription	Fetal Lung	lung
36	chr20:25301600-25304800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr20:25301600-25305800	Weak transcription	Right Atrium	heart
38	chr20:25301600-25308400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr20:25301600-25309000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr20:25301800-25304600	Strong transcription	Fetal Muscle Leg	muscle
41	chr20:25302200-25317200	Weak transcription	Esophagus	oesophagus
42	chr20:25302400-25304600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr20:25302400-25307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr20:25302600-25309400	Weak transcription	Stomach Mucosa	stomach
45	chr20:25302800-25304600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr20:25302800-25305600	Weak transcription	Fetal Thymus	thymus
47	chr20:25302800-25305800	Strong transcription	Fetal Stomach	stomach
48	chr20:25302800-25306000	Weak transcription	Brain Anterior Caudate	brain
49	chr20:25302800-25308400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr20:25302800-25309000	Weak transcription	Brain Angular Gyrus	brain

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