Variant report

Variant	rs73343053
Chromosome Location	chr20:25268309-25268310
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	POLR2A	chr20:25268245-25268883	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr20:25267853-25268611	HepG2	liver:	n/a	n/a
3	POLR2A	chr20:25265654-25268423	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25260536..25263156-chr20:25267514..25269055,2	MCF-7	breast:

Variant related genes	Relation type
PYGB	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

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]
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]
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	0.93[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]
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]
rs73333142	1.00[EUR][1000 genomes]
rs73333167	1.00[EUR][1000 genomes]
rs73333174	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]
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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343058	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343076	1.00[AMR][1000 genomes]
rs73343090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345003	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345011	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345016	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345021	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345040	0.81[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	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	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]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25230400-25291600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr20:25235600-25291200	Weak transcription	Fetal Kidney	kidney
3	chr20:25241800-25273200	Weak transcription	Stomach Mucosa	stomach
4	chr20:25243000-25269600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr20:25247600-25277400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:25249000-25280200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:25249200-25274800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr20:25249200-25275000	Strong transcription	A549	lung
9	chr20:25249200-25285800	Strong transcription	Dnd41	blood
10	chr20:25249400-25274600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr20:25249400-25274800	Strong transcription	Osteobl	bone
12	chr20:25249400-25276200	Strong transcription	Fetal Intestine Large	intestine
13	chr20:25249600-25273400	Strong transcription	NHEK	skin
14	chr20:25249600-25274400	Strong transcription	Lung	lung
15	chr20:25249600-25274600	Strong transcription	Primary T cells from cord blood	blood
16	chr20:25249600-25274600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr20:25249600-25274800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr20:25249600-25275000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:25249600-25275000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr20:25249600-25275000	Strong transcription	NHLF	lung
21	chr20:25249600-25275200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr20:25249600-25279000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr20:25249600-25279400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:25249600-25284800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr20:25249600-25285200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr20:25249800-25270000	Strong transcription	Aorta	Aorta
27	chr20:25249800-25273200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr20:25249800-25273400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:25249800-25273400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr20:25249800-25274000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr20:25249800-25274600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr20:25249800-25274600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr20:25249800-25275000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr20:25249800-25275200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr20:25249800-25275200	Strong transcription	Fetal Stomach	stomach
36	chr20:25249800-25276400	Strong transcription	Fetal Intestine Small	intestine
37	chr20:25249800-25284400	Strong transcription	Brain Germinal Matrix	brain
38	chr20:25250000-25269600	Strong transcription	Placenta	Placenta
39	chr20:25250000-25273000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr20:25250000-25274800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr20:25250000-25274800	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr20:25250000-25275800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr20:25250600-25276200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr20:25250800-25285000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:25251400-25275400	Strong transcription	Thymus	Thymus
46	chr20:25251800-25268600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr20:25252200-25276400	Weak transcription	Hela-S3	cervix
48	chr20:25253800-25273800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr20:25254000-25276200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:25254200-25274600	Weak transcription	Psoas Muscle	Psoas

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