Variant report

Variant	rs73345030
Chromosome Location	chr20:25295206-25295207
allele	C/T
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	MAFK	chr20:25295183-25295522	IMR90	lung:	n/a	chr20:25295330-25295345
2	MYC	chr20:25295201-25295225	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr20:25295160-25295522	HepG2	liver:	n/a	chr20:25295330-25295345
4	MAFK	chr20:25295164-25295520	HepG2	liver:	n/a	chr20:25295330-25295345
5	MAFF	chr20:25295198-25295520	HepG2	liver:	n/a	chr20:25295328-25295346

No.	Distal block	Cell Line	Cell type
1	chr20:25289689..25291653-chr20:25295040..25297946,2	K562	blood:
2	chr20:25294442..25296070-chr20:25302413..25304225,2	K562	blood:
3	chr20:25293138..25295967-chr20:25369856..25372739,2	MCF-7	breast:

Variant related genes	Relation type
ABHD12	TF binding region
ENSG00000100997	Chromatin interaction

Extended variants
information (count: 130 )
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	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58410604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58593226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58709664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58722006	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]
rs59431257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59857017	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60459445	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[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331824	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]
rs73333187	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]
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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343050	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343058	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343076	1.00[AMR][1000 genomes]
rs73343090	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343097	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345003	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345011	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345016	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345021	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345068	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347016	1.00[AMR][1000 genomes]
rs73347023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347066	1.00[AMR][1000 genomes]
rs8115188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8117413	1.00[AMR][1000 genomes]
rs8118017	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8119273	1.00[EUR][1000 genomes]
rs8120601	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: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:116 , 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	chr20:25290200-25297000	Weak transcription	Fetal Brain Female	brain
8	chr20:25290800-25300200	Weak transcription	Fetal Lung	lung
9	chr20:25291600-25298200	Weak transcription	Primary B cells from cord blood	blood
10	chr20:25291800-25297600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr20:25292000-25295400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr20:25292000-25297200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr20:25292000-25298400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr20:25292000-25299600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr20:25292000-25310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:25292000-25325200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr20:25292000-25327400	Weak transcription	Aorta	Aorta
18	chr20:25292200-25295400	Weak transcription	Primary T cells from cord blood	blood
19	chr20:25292200-25295600	Weak transcription	Right Ventricle	heart
20	chr20:25292200-25295800	Weak transcription	HMEC	breast
21	chr20:25292200-25296000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:25292200-25296000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr20:25292200-25297000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr20:25292200-25297600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr20:25292200-25298000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr20:25292200-25299600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr20:25292200-25303600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:25292200-25303800	Weak transcription	HUVEC	blood vessel
29	chr20:25292200-25305600	Weak transcription	Hela-S3	cervix
30	chr20:25292200-25309600	Weak transcription	Psoas Muscle	Psoas
31	chr20:25292200-25316600	Weak transcription	NHEK	skin
32	chr20:25292400-25295400	Weak transcription	Gastric	stomach
33	chr20:25292400-25295400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr20:25292400-25295600	Weak transcription	Osteobl	bone
35	chr20:25292400-25295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:25292400-25295800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr20:25292400-25295800	Weak transcription	NH-A	brain
38	chr20:25292400-25296000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr20:25292400-25296200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr20:25292400-25296200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr20:25292400-25297000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr20:25292400-25297200	Weak transcription	Colonic Mucosa	Colon
43	chr20:25292400-25297200	Weak transcription	Esophagus	oesophagus
44	chr20:25292400-25297800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr20:25292400-25297800	Weak transcription	Adipose Nuclei	Adipose
46	chr20:25292400-25297800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr20:25292400-25299000	Weak transcription	Brain Angular Gyrus	brain
48	chr20:25292400-25299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr20:25292400-25299600	Weak transcription	Brain Anterior Caudate	brain
50	chr20:25292400-25299600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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