Variant report

Variant	rs66693308
Chromosome Location	chr19:21244290-21244291
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	chr19:21241318-21244493	K562	blood:	n/a	n/a
2	POLR2A	chr19:21243948-21244321	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
VN1R80P	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10413569	0.89[EUR][1000 genomes]
rs10413841	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10416447	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10425841	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11085427	1.00[EUR][1000 genomes]
rs11085429	0.99[EUR][1000 genomes]
rs12052091	1.00[EUR][1000 genomes]
rs12150909	1.00[EUR][1000 genomes]
rs12151107	0.90[EUR][1000 genomes]
rs17618418	0.87[EUR][1000 genomes]
rs2358793	0.95[EUR][1000 genomes]
rs3919641	0.98[EUR][1000 genomes]
rs3937493	0.94[EUR][1000 genomes]
rs4580323	0.90[EUR][1000 genomes]
rs61733856	1.00[EUR][1000 genomes]
rs73012909	0.87[EUR][1000 genomes]
rs73012916	0.90[EUR][1000 genomes]
rs73012919	0.90[EUR][1000 genomes]
rs73012925	0.90[EUR][1000 genomes]
rs73012931	0.90[EUR][1000 genomes]
rs73012943	0.94[EUR][1000 genomes]
rs73014828	0.95[EUR][1000 genomes]
rs73014838	0.95[EUR][1000 genomes]
rs73014844	0.95[EUR][1000 genomes]
rs73014852	0.98[EUR][1000 genomes]
rs73014854	0.98[EUR][1000 genomes]
rs73014855	0.98[EUR][1000 genomes]
rs73014863	0.98[EUR][1000 genomes]
rs73014868	0.98[EUR][1000 genomes]
rs73018961	1.00[EUR][1000 genomes]
rs73018974	1.00[EUR][1000 genomes]
rs73018975	1.00[EUR][1000 genomes]
rs73018978	1.00[EUR][1000 genomes]
rs73019002	1.00[EUR][1000 genomes]
rs73020605	1.00[EUR][1000 genomes]
rs73020608	1.00[EUR][1000 genomes]
rs73020616	1.00[EUR][1000 genomes]
rs73020624	1.00[EUR][1000 genomes]
rs73020625	1.00[EUR][1000 genomes]
rs73020628	1.00[EUR][1000 genomes]
rs73020630	1.00[EUR][1000 genomes]
rs73020631	1.00[EUR][1000 genomes]
rs73020636	1.00[EUR][1000 genomes]
rs73020644	1.00[EUR][1000 genomes]
rs73020654	1.00[EUR][1000 genomes]
rs73020661	1.00[EUR][1000 genomes]
rs73022623	1.00[EUR][1000 genomes]
rs73022624	1.00[EUR][1000 genomes]
rs73022630	1.00[EUR][1000 genomes]
rs73022634	0.99[EUR][1000 genomes]
rs73022639	0.99[EUR][1000 genomes]
rs73022640	0.97[EUR][1000 genomes]
rs73022648	0.98[EUR][1000 genomes]
rs73022667	0.98[EUR][1000 genomes]
rs73024637	0.98[EUR][1000 genomes]
rs73024645	0.98[EUR][1000 genomes]
rs73024647	0.98[EUR][1000 genomes]
rs73024648	0.98[EUR][1000 genomes]
rs73024655	0.98[EUR][1000 genomes]
rs73024657	0.98[EUR][1000 genomes]
rs73024662	0.98[EUR][1000 genomes]
rs73024665	0.95[EUR][1000 genomes]
rs73024668	0.98[EUR][1000 genomes]
rs73024670	0.98[EUR][1000 genomes]
rs73024671	0.98[EUR][1000 genomes]
rs73024674	0.98[EUR][1000 genomes]
rs73024675	0.98[EUR][1000 genomes]
rs73024685	0.98[EUR][1000 genomes]
rs73024688	0.98[EUR][1000 genomes]
rs73026655	0.98[EUR][1000 genomes]
rs73026661	0.98[EUR][1000 genomes]
rs73026662	0.98[EUR][1000 genomes]
rs73026693	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking 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	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	esv1805898	chr19:21233245-21256249	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
11	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21227800-21247200	Weak transcription	HepG2	liver
3	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:21231800-21244600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:21236000-21247000	Weak transcription	Pancreas	Pancrea
6	chr19:21236400-21264800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr19:21238400-21248400	Weak transcription	Psoas Muscle	Psoas
8	chr19:21239200-21245400	Weak transcription	Esophagus	oesophagus
9	chr19:21239200-21246800	Weak transcription	Aorta	Aorta
10	chr19:21239800-21249400	Weak transcription	Hela-S3	cervix
11	chr19:21240000-21247400	Weak transcription	Brain Substantia Nigra	brain
12	chr19:21240000-21264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:21240000-21264800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:21240200-21245400	Weak transcription	Ovary	ovary
15	chr19:21240200-21246200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:21240200-21247600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:21240200-21264800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:21240800-21246800	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:21240800-21250000	Weak transcription	Fetal Thymus	thymus
20	chr19:21240800-21256800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:21241000-21245400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:21241000-21245400	Weak transcription	Brain Germinal Matrix	brain
23	chr19:21241000-21246800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:21241000-21246800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:21241000-21246800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:21241000-21246800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:21241000-21247000	Weak transcription	Osteobl	bone
28	chr19:21241000-21248200	Weak transcription	Brain Angular Gyrus	brain
29	chr19:21241000-21248200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:21241000-21248200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:21241000-21264800	Weak transcription	Gastric	stomach
32	chr19:21241200-21245200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:21241200-21245200	Weak transcription	Fetal Stomach	stomach
34	chr19:21241200-21245400	Weak transcription	Left Ventricle	heart
35	chr19:21241200-21245400	Weak transcription	Thymus	Thymus
36	chr19:21241200-21245600	Weak transcription	Fetal Muscle Leg	muscle
37	chr19:21241200-21246000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:21241200-21247200	Weak transcription	Adipose Nuclei	Adipose
39	chr19:21241200-21248000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr19:21241200-21251000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:21241200-21251000	Weak transcription	NH-A	brain
42	chr19:21241200-21264800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:21241400-21246800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:21241400-21249600	Weak transcription	Placenta	Placenta
45	chr19:21241400-21251000	Weak transcription	Fetal Kidney	kidney
46	chr19:21241400-21251800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:21241400-21252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:21241400-21253600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:21241400-21264800	Weak transcription	HSMMtube	muscle
50	chr19:21241600-21246600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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