Variant report

Variant	rs2098682
Chromosome Location	chr19:21203196-21203197
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	SP1	chr19:21203103-21203736	A549	lung:	n/a	chr19:21203373-21203394 chr19:21203353-21203365 chr19:21203355-21203364 chr19:21203353-21203364 chr19:21203639-21203651 chr19:21203350-21203364 chr19:21203354-21203363 chr19:21203640-21203649 chr19:21203355-21203364 chr19:21203641-21203650 chr19:21203639-21203651 chr19:21203353-21203365 chr19:21203636-21203650
2	CHD2	chr19:21203127-21204037	GM12878	blood:	n/a	n/a
3	SPI1	chr19:21203181-21203401	K562	blood:	n/a	n/a
4	SPI1	chr19:21203053-21203462	GM12891	blood:	n/a	n/a
5	GTF2F1	chr19:21203174-21203983	Hela-S3	cervix:	n/a	n/a
6	ARID3A	chr19:21203103-21203905	HepG2	liver:	n/a	n/a
7	EP300	chr19:21203110-21203454	SK-N-SH_RA	brain:	n/a	n/a
8	KAP1	chr19:21203185-21203978	HEK293	kidney:	n/a	n/a
9	TBP	chr19:21203053-21203868	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr19:21203033-21204132	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:21203179-21203993	MCF-7	breast:	n/a	n/a
12	RCOR1	chr19:21203172-21203893	Hela-S3	cervix:	n/a	n/a
13	SP1	chr19:21203068-21203682	H1-hESC	embryonic stem cell:	n/a	chr19:21203373-21203394 chr19:21203353-21203365 chr19:21203355-21203364 chr19:21203353-21203364 chr19:21203639-21203651 chr19:21203350-21203364 chr19:21203354-21203363 chr19:21203640-21203649 chr19:21203355-21203364 chr19:21203641-21203650 chr19:21203639-21203651 chr19:21203353-21203365 chr19:21203636-21203650
14	POLR2A	chr19:21202995-21204074	GM12892	blood:	n/a	n/a
15	SPI1	chr19:21203103-21203457	GM12878	blood:	n/a	n/a
16	EBF1	chr19:21203125-21203928	GM12878	blood:	n/a	chr19:21203631-21203640
17	POLR2A	chr19:21203170-21203857	HUVEC	blood vessel:	n/a	n/a
18	RELA	chr19:21203111-21204048	GM15510	blood:	n/a	n/a
19	POLR2A	chr19:21203145-21203706	U87	brain:	n/a	n/a
20	NFYA	chr19:21203113-21203758	Hela-S3	cervix:	n/a	chr19:21203372-21203386 chr19:21203372-21203387 chr19:21203372-21203385 chr19:21203374-21203384
21	POLR2A	chr19:21203084-21204013	GM19099	blood:	n/a	n/a
22	PBX3	chr19:21203126-21203572	A549	lung:	n/a	chr19:21203297-21203306
23	ZNF263	chr19:21203131-21203957	HEK293-T-REx	kidney:	n/a	chr19:21203260-21203269
24	POU2F2	chr19:21203059-21203564	GM12878	blood:	n/a	chr19:21203220-21203234 chr19:21203220-21203235 chr19:21203223-21203233 chr19:21203224-21203231 chr19:21203223-21203232 chr19:21203222-21203234 chr19:21203223-21203233
25	POLR2A	chr19:21203095-21203978	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr19:21203107-21204144	H1-hESC	embryonic stem cell:	n/a	n/a
27	ELF1	chr19:21203141-21203929	K562	blood:	n/a	chr19:21203673-21203685 chr19:21203439-21203448 chr19:21203438-21203449 chr19:21203438-21203449
28	POU2F2	chr19:21203135-21204015	GM12891	blood:	n/a	chr19:21203220-21203234 chr19:21203220-21203235 chr19:21203223-21203233 chr19:21203224-21203231 chr19:21203223-21203232 chr19:21203222-21203234 chr19:21203223-21203233
29	ELF1	chr19:21203127-21203759	SK-N-SH	brain:	n/a	chr19:21203673-21203685 chr19:21203439-21203448 chr19:21203438-21203449 chr19:21203438-21203449
30	SP2	chr19:21203158-21203602	H1-hESC	embryonic stem cell:	n/a	chr19:21203349-21203364
31	SP2	chr19:21203113-21203516	H1-hESC	embryonic stem cell:	n/a	chr19:21203349-21203364
32	POLR2A	chr19:21203144-21204118	GM12891	blood:	n/a	n/a
33	RCOR1	chr19:21203192-21203982	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:21203044-21204008	GM18505	blood:	n/a	n/a
35	PAX5	chr19:21203193-21204018	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:21203116-21204044	GM12878	blood:	n/a	n/a
37	MAZ	chr19:21203184-21203962	K562	blood:	n/a	chr19:21203352-21203362
38	ATF2	chr19:21203137-21203776	GM12878	blood:	n/a	n/a
39	GABPA	chr19:21203071-21203736	SK-N-SH	brain:	n/a	chr19:21203354-21203363
40	POLR2A	chr19:21203143-21204048	K562	blood:	n/a	n/a
41	SPI1	chr19:21203045-21203581	HL-60	blood:	n/a	n/a
42	SP1	chr19:21203141-21204017	GM12878	blood:	n/a	chr19:21203373-21203394 chr19:21203353-21203365 chr19:21203355-21203364 chr19:21203353-21203364 chr19:21203639-21203651 chr19:21203350-21203364 chr19:21203354-21203363 chr19:21203640-21203649 chr19:21203355-21203364 chr19:21203641-21203650 chr19:21203639-21203651 chr19:21203353-21203365 chr19:21203636-21203650
43	NR2F2	chr19:21203033-21203769	MCF-7	breast:	n/a	n/a
44	GABPA	chr19:21203196-21203583	A549	lung:	n/a	chr19:21203354-21203363
45	ELF1	chr19:21203058-21203917	MCF-7	breast:	n/a	chr19:21203673-21203685 chr19:21203439-21203448 chr19:21203438-21203449 chr19:21203438-21203449
46	TCF12	chr19:21203115-21203908	A549	lung:	n/a	n/a
47	SIN3A	chr19:21203145-21204049	H1-hESC	embryonic stem cell:	n/a	n/a
48	SP2	chr19:21203120-21203663	HepG2	liver:	n/a	chr19:21203349-21203364
49	TAF1	chr19:21203102-21204026	ECC-1	luminal epithelium:	n/a	n/a
50	PML	chr19:21203129-21204085	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ZNF430	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10406359	1.00[AMR][1000 genomes]
rs10418266	1.00[AMR][1000 genomes]
rs17447963	1.00[AMR][1000 genomes]
rs57505697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57601660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57981503	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58002329	1.00[AMR][1000 genomes]
rs58148410	1.00[AMR][1000 genomes]
rs59609198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60170851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60293432	1.00[AMR][1000 genomes]
rs61179921	1.00[AMR][1000 genomes]
rs7246695	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247066	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7247670	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248199	1.00[AMR][1000 genomes]
rs7259985	1.00[AMR][1000 genomes]
rs73531819	0.94[AFR][1000 genomes]
rs73531882	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531886	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531897	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73531902	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533603	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533607	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533690	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73540426	1.00[AMR][1000 genomes]
rs73540428	1.00[AMR][1000 genomes]
rs73540432	1.00[AMR][1000 genomes]
rs73542615	1.00[AMR][1000 genomes]
rs73542629	1.00[AMR][1000 genomes]
rs73542640	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542656	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544576	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546304	1.00[AMR][1000 genomes]
rs73546306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8104371	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8108394	1.00[AMR][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	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	esv3387197	chr19:21201612-21203810	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	esv3407422	chr19:21201712-21203910	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21192400-21203400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:21202800-21203200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:21202800-21204200	Active TSS	Duodenum Mucosa	Duodenum
4	chr19:21202800-21204400	Active TSS	Brain Angular Gyrus	brain
5	chr19:21202800-21204600	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr19:21202800-21204800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr19:21202800-21204800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:21202800-21204800	Active TSS	Stomach Smooth Muscle	stomach
9	chr19:21203000-21203400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr19:21203000-21203400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr19:21203000-21203400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr19:21203000-21203400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:21203000-21203400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr19:21203000-21203400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:21203000-21203400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr19:21203000-21203400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:21203000-21203400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr19:21203000-21203400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr19:21203000-21203400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:21203000-21203400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:21203000-21203400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:21203000-21203400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:21203000-21203400	Active TSS	Liver	Liver
24	chr19:21203000-21203400	Flanking Active TSS	Fetal Thymus	thymus
25	chr19:21203000-21203400	Flanking Active TSS	Thymus	Thymus
26	chr19:21203000-21203400	Flanking Active TSS	Dnd41	blood
27	chr19:21203000-21203400	Active TSS	HepG2	liver
28	chr19:21203000-21203600	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr19:21203000-21203800	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr19:21203000-21203800	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr19:21203000-21204000	Active TSS	Primary B cells from cord blood	blood
32	chr19:21203000-21204000	Active TSS	Primary B cells from peripheral blood	blood
33	chr19:21203000-21204000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr19:21203000-21204000	Active TSS	Placenta	Placenta
35	chr19:21203000-21204000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr19:21203000-21204200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr19:21203000-21204200	Active TSS	Primary hematopoietic stem cells	blood
38	chr19:21203000-21204200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:21203000-21204200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:21203000-21204200	Active TSS	Adipose Nuclei	Adipose
41	chr19:21203000-21204200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr19:21203000-21204200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr19:21203000-21204200	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr19:21203000-21204200	Active TSS	HUVEC	blood vessel
45	chr19:21203000-21204400	Active TSS	Primary T cells from cord blood	blood
46	chr19:21203000-21204400	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr19:21203000-21204400	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr19:21203000-21204400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:21203000-21204400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:21203000-21204400	Active TSS	Aorta	Aorta

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