Variant report

Variant	rs73018978
Chromosome Location	chr19:21239072-21239073
allele	A/G
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	chr19:21239021-21239098	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21238270..21239771-chr19:21264302..21266943,2	K562	blood:

Variant related genes	Relation type
ZNF430	TF binding region
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 85 )
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11085429	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12052091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12150909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151107	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17618418	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2358793	0.95[EUR][1000 genomes]
rs3919641	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3937493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4580323	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61733856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66693308	1.00[EUR][1000 genomes]
rs73012909	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73012916	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012919	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012925	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012931	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012943	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73014828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014854	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73018961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018974	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020605	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020625	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020630	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020644	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020661	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022623	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022624	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022630	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022634	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73022639	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73022640	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73022648	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73022667	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024637	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024645	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024647	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024648	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024655	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024657	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024662	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024665	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73024668	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024670	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024671	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024674	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024675	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024685	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024688	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026655	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026661	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026662	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026693	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
5	chr19:21212000-21241400	Weak transcription	Fetal Heart	heart
6	chr19:21221400-21242000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:21222400-21242200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:21223000-21244200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:21227400-21241400	ZNF genes & repeats	GM12878-XiMat	blood
10	chr19:21227800-21247200	Weak transcription	HepG2	liver
11	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:21230800-21240400	Weak transcription	HSMMtube	muscle
13	chr19:21230800-21243000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:21231600-21239400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
15	chr19:21231600-21241000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr19:21231600-21241600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr19:21231800-21244600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:21232200-21241000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
19	chr19:21232200-21241000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr19:21232200-21241200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr19:21232200-21242200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:21232200-21242400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr19:21232200-21243600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:21232800-21241000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:21234200-21242400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:21234600-21241400	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr19:21235000-21241200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr19:21235200-21239600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:21235200-21239800	ZNF genes & repeats	Dnd41	blood
30	chr19:21235200-21240200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:21235200-21242000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:21235200-21242600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:21235400-21240000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:21235400-21241000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr19:21235400-21241000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
36	chr19:21235400-21241000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr19:21235400-21243200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:21235600-21239400	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr19:21235600-21241000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:21235600-21241600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
41	chr19:21235800-21241600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:21236000-21239400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr19:21236000-21239400	Weak transcription	Brain Substantia Nigra	brain
44	chr19:21236000-21239400	Weak transcription	A549	lung
45	chr19:21236000-21239600	Weak transcription	Brain Angular Gyrus	brain
46	chr19:21236000-21241200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:21236000-21247000	Weak transcription	Pancreas	Pancrea
48	chr19:21236400-21264800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:21236600-21240800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:21237000-21239200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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