Variant report

Variant	rs564519021
Chromosome Location	chr19:42772658-42772659
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	ELF1	chr19:42772315-42773422	HepG2	liver:	n/a	chr19:42772621-42772633
2	FOXA1	chr19:42772295-42773078	HepG2	liver:	n/a	n/a
3	TAF1	chr19:42772302-42772968	H1-hESC	embryonic stem cell:	n/a	n/a
4	ETS1	chr19:42771813-42773468	A549	lung:	n/a	chr19:42772249-42772260 chr19:42772576-42772587 chr19:42772677-42772688 chr19:42772867-42772874 chr19:42772865-42772878 chr19:42772866-42772879
5	FOS	chr19:42772277-42773547	K562	blood:	n/a	chr19:42773459-42773468 chr19:42773460-42773469 chr19:42772824-42772838 chr19:42772632-42772641 chr19:42773365-42773374 chr19:42772504-42772513
6	FOXM1	chr19:42772112-42773556	GM12878	blood:	n/a	n/a
7	PBX3	chr19:42771830-42773606	A549	lung:	n/a	chr19:42772633-42772642 chr19:42773366-42773375 chr19:42772483-42772492 chr19:42773026-42773035 chr19:42773037-42773046 chr19:42773267-42773287
8	SP1	chr19:42772274-42773516	GM12878	blood:	n/a	chr19:42773234-42773244 chr19:42773233-42773245 chr19:42773233-42773245 chr19:42773234-42773244 chr19:42772524-42772533 chr19:42772623-42772644 chr19:42773503-42773515 chr19:42773460-42773472 chr19:42773009-42773023 chr19:42772578-42772587 chr19:42773235-42773244 chr19:42773460-42773472 chr19:42773503-42773515 chr19:42773234-42773248 chr19:42773234-42773243 chr19:42772578-42772588 chr19:42773016-42773037 chr19:42773234-42773243 chr19:42773457-42773471 chr19:42772481-42772502 chr19:42773505-42773514 chr19:42773461-42773470 chr19:42773462-42773471 chr19:42773356-42773377 chr19:42773462-42773471 chr19:42773504-42773513
9	USF1	chr19:42772331-42772975	H1-hESC	embryonic stem cell:	n/a	chr19:42772619-42772635
10	ATF2	chr19:42772120-42773434	GM12878	blood:	n/a	n/a
11	MAX	chr19:42772162-42773224	MCF-7	breast:	n/a	chr19:42772571-42772580 chr19:42772569-42772579 chr19:42772570-42772580 chr19:42772573-42772582 chr19:42772569-42772584 chr19:42772570-42772579 chr19:42772571-42772581
12	FOSL2	chr19:42772229-42773227	A549	lung:	n/a	chr19:42772824-42772838 chr19:42772632-42772641 chr19:42772504-42772513
13	POLR2A	chr19:42772213-42772726	HCT-116	colon:	n/a	n/a
14	POLR2A	chr19:42772511-42773291	GM12892	blood:	n/a	n/a
15	PAX5	chr19:42772368-42773220	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr19:42772049-42773544	SK-N-SH	brain:	n/a	n/a
17	GABPA	chr19:42771688-42773575	A549	lung:	n/a	chr19:42773461-42773470 chr19:42773235-42773244
18	CREB1	chr19:42771950-42773887	HepG2	liver:	n/a	n/a
19	STAT3	chr19:42772374-42773064	MCF10A-Er-Src	breast:	n/a	chr19:42772519-42772531 chr19:42772733-42772741 chr19:42772520-42772532
20	ELF1	chr19:42772302-42773494	SK-N-SH	brain:	n/a	chr19:42772621-42772633
21	GTF2F1	chr19:42772178-42773391	H1-hESC	embryonic stem cell:	n/a	n/a
22	RUNX3	chr19:42772101-42773543	GM12878	blood:	n/a	chr19:42772650-42772665
23	PML	chr19:42772416-42772669	GM12878	blood:	n/a	n/a
24	JUND	chr19:42772313-42772871	H1-hESC	embryonic stem cell:	n/a	chr19:42772824-42772838 chr19:42772632-42772641 chr19:42772504-42772513
25	CEBPB	chr19:42771492-42773567	A549	lung:	n/a	chr19:42773027-42773035 chr19:42772634-42772642 chr19:42773367-42773375 chr19:42772483-42772491
26	E2F6	chr19:42771936-42773385	K562	blood:	n/a	chr19:42772482-42772491 chr19:42773235-42773244 chr19:42773337-42773347 chr19:42772634-42772643 chr19:42773367-42773376 chr19:42772503-42772512
27	TAF1	chr19:42772376-42772820	SK-N-SH	brain:	n/a	n/a
28	HA-E2F1	chr19:42771977-42772919	MCF-7	breast:	n/a	chr19:42772482-42772491 chr19:42772634-42772643 chr19:42772503-42772512
29	CEBPB	chr19:42771498-42772799	IMR90	lung:	n/a	chr19:42772634-42772642 chr19:42772483-42772491
30	PBX3	chr19:42771833-42773584	A549	lung:	n/a	chr19:42772633-42772642 chr19:42773366-42773375 chr19:42772483-42772492 chr19:42773026-42773035 chr19:42773037-42773046 chr19:42773267-42773287
31	ATF2	chr19:42771955-42773447	H1-hESC	embryonic stem cell:	n/a	n/a
32	NR3C1	chr19:42772180-42772808	A549	lung:	n/a	n/a
33	POLR2A	chr19:42772075-42773019	MCF-7	breast:	n/a	n/a
34	ZKSCAN1	chr19:42772458-42773401	Hela-S3	cervix:	n/a	n/a
35	MAZ	chr19:42772162-42773563	HepG2	liver:	n/a	chr19:42772571-42772580 chr19:42772570-42772580 chr19:42772573-42772582 chr19:42772569-42772584 chr19:42772570-42772579 chr19:42772571-42772581
36	REST	chr19:42772205-42772682	K562	blood:	n/a	chr19:42772287-42772296 chr19:42772324-42772337
37	MAX	chr19:42771996-42773541	K562	blood:	n/a	chr19:42772571-42772580 chr19:42772569-42772579 chr19:42772570-42772580 chr19:42772573-42772582 chr19:42772569-42772584 chr19:42772570-42772579 chr19:42772571-42772581
38	POLR2A	chr19:42772138-42772831	PANC-1	pancreas:	n/a	n/a
39	SP2	chr19:42772404-42773574	H1-hESC	embryonic stem cell:	n/a	chr19:42773327-42773350 chr19:42773266-42773289 chr19:42773184-42773207 chr19:42773025-42773035 chr19:42773122-42773145
40	POLR2A	chr19:42772613-42773077	GM12878	blood:	n/a	n/a
41	MXI1	chr19:42772088-42773417	Hela-S3	cervix:	n/a	chr19:42772570-42772579 chr19:42772572-42772581
42	EGR1	chr19:42772441-42772799	K562	blood:	n/a	n/a
43	E2F6	chr19:42771814-42773506	A549	lung:	n/a	chr19:42772482-42772491 chr19:42773461-42773470 chr19:42773235-42773244 chr19:42773461-42773473 chr19:42773337-42773347 chr19:42772634-42772643 chr19:42773367-42773376 chr19:42772503-42772512
44	JUN	chr19:42771813-42773421	K562	blood:	n/a	chr19:42772824-42772838 chr19:42772632-42772641 chr19:42773365-42773374 chr19:42772504-42772513 chr19:42772503-42772516
45	TAF1	chr19:42772081-42773525	PFSK-1	brain:	n/a	n/a
46	GABPA	chr19:42771760-42773574	A549	lung:	n/a	chr19:42773461-42773470 chr19:42773235-42773244
47	EP300	chr19:42772346-42773010	K562	blood:	n/a	chr19:42772700-42772716
48	EP300	chr19:42771739-42773551	A549	lung:	n/a	chr19:42772700-42772716
49	MAX	chr19:42772053-42773268	MCF-7	breast:	n/a	chr19:42772571-42772580 chr19:42772569-42772579 chr19:42772570-42772580 chr19:42772573-42772582 chr19:42772569-42772584 chr19:42772570-42772579 chr19:42772571-42772581
50	POLR2A	chr19:42771974-42773061	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42720638..42724432-chr19:42771891..42775014,4	MCF-7	breast:
2	chr19:42771105..42773106-chr19:42805155..42808634,5	K562	blood:
3	chr19:42771398..42774307-chr19:42804493..42807877,4	MCF-7	breast:
4	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:

Variant related genes	Relation type
CIC	TF binding region
ENSG00000160570	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000167625	Chromatin interaction
ENSG00000268643	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
12	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
13	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
14	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
15	nsv828552	chr19:42764336-42774166	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	esv1792410	chr19:42768288-42773316	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv1801251	chr19:42768288-42788467	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
18	esv1803455	chr19:42768288-42788467	Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
19	esv1803706	chr19:42768288-42788467	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
20	esv1801291	chr19:42772432-42788467	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
21	esv1801294	chr19:42772432-42788467	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
22	esv1801914	chr19:42772432-42788467	Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
23	esv17956	chr19:42772456-42773408	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42771800-42774200	Active TSS	NHDF-Ad	bronchial
2	chr19:42771800-42775400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:42772000-42773000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr19:42772000-42773800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:42772000-42773800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:42772000-42773800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:42772000-42773800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr19:42772000-42774000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:42772000-42774000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:42772000-42774000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr19:42772000-42774000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr19:42772000-42774000	Active TSS	Esophagus	oesophagus
13	chr19:42772000-42774200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:42772000-42774200	Active TSS	Left Ventricle	heart
15	chr19:42772000-42774400	Active TSS	Lung	lung
16	chr19:42772000-42774400	Active TSS	Ovary	ovary
17	chr19:42772000-42774400	Active TSS	HSMMtube	muscle
18	chr19:42772000-42774800	Active TSS	Right Atrium	heart
19	chr19:42772000-42775200	Active TSS	Psoas Muscle	Psoas
20	chr19:42772000-42775400	Active TSS	Aorta	Aorta
21	chr19:42772200-42772800	Active TSS	Fetal Heart	heart
22	chr19:42772200-42773000	Active TSS	Stomach Mucosa	stomach
23	chr19:42772200-42773600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr19:42772200-42773800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:42772200-42773800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:42772200-42773800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr19:42772200-42773800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:42772200-42773800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:42772200-42773800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:42772200-42773800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr19:42772200-42773800	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr19:42772200-42773800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:42772200-42773800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:42772200-42773800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:42772200-42773800	Active TSS	Brain Germinal Matrix	brain
36	chr19:42772200-42773800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr19:42772200-42773800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr19:42772200-42773800	Active TSS	Fetal Intestine Large	intestine
39	chr19:42772200-42773800	Active TSS	Fetal Stomach	stomach
40	chr19:42772200-42773800	Active TSS	Placenta Amnion	Placenta Amnion
41	chr19:42772200-42773800	Active TSS	Rectal Smooth Muscle	rectum
42	chr19:42772200-42773800	Active TSS	A549	lung
43	chr19:42772200-42773800	Active TSS	Hela-S3	cervix
44	chr19:42772200-42774000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr19:42772200-42774000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:42772200-42774000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:42772200-42774000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:42772200-42774000	Active TSS	Primary T cells from cord blood	blood
49	chr19:42772200-42774000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr19:42772200-42774000	Active TSS	Brain Angular Gyrus	brain

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