Variant report

Variant	rs73020644
Chromosome Location	chr19:21267998-21267999
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	chr19:21267358..21270716-chr19:21272495..21275149,3	MCF-7	breast:
2	chr19:21264764..21267719-chr19:21267936..21273188,6	K562	blood:

Variant related genes	Relation type
ENSG00000160352	Chromatin interaction

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	0.86[EUR][1000 genomes]
rs10416447	0.89[EUR][1000 genomes]
rs10425841	0.98[EUR][1000 genomes]
rs11085427	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11085429	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12052091	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12150909	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151107	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17618418	0.87[EUR][1000 genomes]
rs2358793	0.95[EUR][1000 genomes]
rs3919641	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3937493	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4580323	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61733856	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66693308	1.00[EUR][1000 genomes]
rs73012909	0.87[EUR][1000 genomes]
rs73012916	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012919	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012925	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012931	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012943	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73014828	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014838	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014844	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014852	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014854	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014855	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014863	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014868	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73018961	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018974	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018975	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018978	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019002	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020608	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020616	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020624	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020625	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020628	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020630	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020631	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020636	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020654	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020661	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022623	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022624	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022630	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022634	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73022639	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73022640	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73022648	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73022667	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024637	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024645	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024647	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024648	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024655	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024657	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024662	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024665	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73024668	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024670	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024671	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024674	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024675	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024685	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024688	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026655	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026661	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026662	0.82[AMR][1000 genomes];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	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
8	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
9	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
10	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21247400-21289600	Weak transcription	Aorta	Aorta
2	chr19:21265400-21268400	Weak transcription	Spleen	Spleen
3	chr19:21265400-21274800	Weak transcription	Lung	lung
4	chr19:21265600-21273400	Weak transcription	Left Ventricle	heart
5	chr19:21265600-21273800	Weak transcription	Esophagus	oesophagus
6	chr19:21265600-21275000	Weak transcription	Pancreas	Pancrea
7	chr19:21265600-21286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:21265600-21295800	Weak transcription	Small Intestine	intestine
9	chr19:21265600-21300000	Weak transcription	Brain Angular Gyrus	brain
10	chr19:21265600-21305200	Weak transcription	Psoas Muscle	Psoas
11	chr19:21265800-21268400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr19:21265800-21268800	Weak transcription	Placenta	Placenta
13	chr19:21265800-21270000	Weak transcription	NHLF	lung
14	chr19:21265800-21275000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:21265800-21275000	Weak transcription	Primary B cells from cord blood	blood
16	chr19:21265800-21275000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:21265800-21275400	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:21265800-21282600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:21265800-21289800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:21265800-21290600	Weak transcription	Adipose Nuclei	Adipose
21	chr19:21265800-21297200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:21265800-21297200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:21265800-21299600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:21265800-21299800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:21265800-21302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:21265800-21302800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr19:21265800-21303000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr19:21266000-21268200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr19:21266000-21269400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:21266000-21269600	Weak transcription	NH-A	brain
31	chr19:21266000-21271600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:21266000-21274000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:21266000-21275000	Weak transcription	Fetal Heart	heart
34	chr19:21266000-21276400	Weak transcription	Fetal Intestine Small	intestine
35	chr19:21266000-21278800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:21266000-21286000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr19:21266000-21287600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr19:21266000-21287800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr19:21266000-21288400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:21266000-21289400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:21266000-21290800	Weak transcription	Brain Anterior Caudate	brain
42	chr19:21266000-21290800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr19:21266000-21290800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr19:21266000-21292600	Weak transcription	Fetal Kidney	kidney
45	chr19:21266000-21297400	Weak transcription	HUVEC	blood vessel
46	chr19:21266200-21268000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr19:21266200-21269200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:21266200-21273400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr19:21266200-21273800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:21266200-21274600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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