Variant report

Variant	rs8118017
Chromosome Location	chr20:25367259-25367260
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	chr20:25363843..25367696-chr20:25367830..25371545,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100997	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs12106059	1.00[AMR][1000 genomes];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]
rs417446	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]
rs57522322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57544952	1.00[AMR][1000 genomes]
rs57579912	1.00[EUR][1000 genomes]
rs58189090	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58410604	0.85[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58722006	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58953621	1.00[AMR][1000 genomes]
rs59362331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59431257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59826126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59857017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60459445	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60479943	1.00[AMR][1000 genomes];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]
rs7274976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331819	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331822	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331824	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331833	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331834	0.84[AFR][1000 genomes];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]
rs73335382	1.00[EUR][1000 genomes]
rs73335383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337303	1.00[EUR][1000 genomes]
rs73337316	1.00[AMR][1000 genomes]
rs73337317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337380	1.00[EUR][1000 genomes]
rs73337391	1.00[AMR][1000 genomes];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	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	0.84[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345069	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345071	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345073	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345082	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345088	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347016	1.00[AMR][1000 genomes]
rs73347023	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347042	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347058	0.85[AFR][1000 genomes];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]
rs8120601	1.00[AMR][1000 genomes];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:18 , 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
17	nsv964440	chr20:25351740-25387631	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25337000-25370000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr20:25338000-25369400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:25342200-25370000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr20:25343800-25370000	Weak transcription	Small Intestine	intestine
5	chr20:25345200-25369800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr20:25345800-25369800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr20:25345800-25370000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr20:25345800-25370000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr20:25351400-25369600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr20:25351800-25370000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:25353000-25370000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:25353800-25368800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr20:25353800-25370000	Weak transcription	Adipose Nuclei	Adipose
14	chr20:25353800-25370000	Weak transcription	HSMM	muscle
15	chr20:25354000-25368800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr20:25354000-25369800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:25354000-25369800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr20:25354000-25369800	Weak transcription	NH-A	brain
19	chr20:25354000-25369800	Weak transcription	NHEK	skin
20	chr20:25354800-25370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr20:25355800-25369800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr20:25357800-25369800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr20:25358000-25368800	Weak transcription	Osteobl	bone
24	chr20:25358000-25369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr20:25358000-25370000	Weak transcription	Fetal Muscle Leg	muscle
26	chr20:25358000-25370000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr20:25358200-25369800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr20:25359200-25370000	Weak transcription	HSMMtube	muscle
29	chr20:25359400-25369800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr20:25359800-25369600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr20:25360000-25369800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:25360000-25370000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr20:25360000-25370000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr20:25360000-25370000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr20:25360200-25370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr20:25360400-25370000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr20:25360800-25370000	Weak transcription	Brain Germinal Matrix	brain
38	chr20:25362000-25370000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr20:25362200-25370000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr20:25363000-25370000	Weak transcription	Primary B cells from cord blood	blood
41	chr20:25363000-25370000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr20:25363200-25369800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr20:25363200-25369800	Weak transcription	NHDF-Ad	bronchial
44	chr20:25363200-25370400	Weak transcription	Aorta	Aorta
45	chr20:25363400-25369800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr20:25363400-25370000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr20:25363400-25370000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr20:25363400-25370000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr20:25363400-25370200	Weak transcription	Psoas Muscle	Psoas
50	chr20:25363600-25368000	Weak transcription	Fetal Stomach	stomach

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