Variant report

Variant	esv1780077
Chromosome Location	chr19:52800390-52800396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr19:52800355-52800805	A549	lung:	n/a	chr19:52800653-52800666 chr19:52800410-52800423 chr19:52800406-52800415
2	BHLHE40	chr19:52800388-52801111	K562	blood:	n/a	n/a
3	BHLHE40	chr19:52800103-52800749	HepG2	liver:	n/a	n/a
4	BHLHE40	chr19:52800028-52800858	GM12878	blood:	n/a	n/a
5	CCNT2	chr19:52800052-52800895	K562	blood:	n/a	n/a
6	CEBPD	chr19:52800352-52801134	K562	blood:	n/a	n/a
7	CEBPD	chr19:52800335-52800632	HepG2	liver:	n/a	n/a
8	CHD2	chr19:52800020-52800824	GM12878	blood:	n/a	n/a
9	CHD2	chr19:52800071-52801083	HepG2	liver:	n/a	n/a
10	CREB1	chr19:52800370-52800988	A549	lung:	n/a	n/a
11	E2F6	chr19:52800362-52800888	K562	blood:	n/a	n/a
12	E2F6	chr19:52800387-52800884	A549	lung:	n/a	n/a
13	EGR1	chr19:52800357-52800604	GM12878	blood:	n/a	chr19:52800511-52800525
14	EGR1	chr19:52800366-52800990	MCF-7	breast:	n/a	chr19:52800768-52800782 chr19:52800511-52800525
15	EGR1	chr19:52800344-52800544	GM12878	blood:	n/a	chr19:52800511-52800525
16	EGR1	chr19:52799937-52800947	K562	blood:	n/a	chr19:52800768-52800782 chr19:52800511-52800525
17	EGR1	chr19:52799783-52800906	K562	blood:	n/a	chr19:52800768-52800782 chr19:52800511-52800525
18	ELF1	chr19:52799938-52801103	GM12878	blood:	n/a	chr19:52800716-52800727
19	ELF1	chr19:52800355-52800848	HepG2	liver:	n/a	chr19:52800716-52800727
20	ELF1	chr19:52800345-52800876	SK-N-SH	brain:	n/a	chr19:52800716-52800727
21	ELF1	chr19:52800350-52800960	A549	lung:	n/a	chr19:52800716-52800727
22	ELF1	chr19:52799975-52800924	MCF-7	breast:	n/a	chr19:52800716-52800727
23	ELF1	chr19:52800347-52800819	A549	lung:	n/a	chr19:52800716-52800727
24	ELF1	chr19:52800333-52800913	K562	blood:	n/a	chr19:52800716-52800727
25	ELF1	chr19:52799921-52800984	HCT-116	colon:	n/a	chr19:52800716-52800727
26	ELF1	chr19:52800002-52800958	HCT-116	colon:	n/a	chr19:52800716-52800727
27	ELF1	chr19:52799974-52800929	SK-N-SH	brain:	n/a	chr19:52800716-52800727
28	ELF1	chr19:52800339-52800984	GM12878	blood:	n/a	chr19:52800716-52800727
29	ELF1	chr19:52800132-52801013	MCF-7	breast:	n/a	chr19:52800716-52800727
30	ELF1	chr19:52800338-52800939	HepG2	liver:	n/a	chr19:52800716-52800727
31	ELF1	chr19:52800344-52800958	K562	blood:	n/a	chr19:52800716-52800727
32	ETS1	chr19:52800358-52800772	A549	lung:	n/a	n/a
33	ETS1	chr19:52800393-52800806	K562	blood:	n/a	n/a
34	FOXA2	chr19:52800345-52800834	A549	lung:	n/a	n/a
35	GABPA	chr19:52800343-52801067	SK-N-SH	brain:	n/a	n/a
36	GABPA	chr19:52800210-52801019	MCF-7	breast:	n/a	n/a
37	GABPA	chr19:52800357-52800545	HepG2	liver:	n/a	n/a
38	GABPA	chr19:52800345-52801085	K562	blood:	n/a	n/a
39	GABPA	chr19:52800215-52801006	MCF-7	breast:	n/a	n/a
40	GABPA	chr19:52800350-52800940	A549	lung:	n/a	n/a
41	GABPA	chr19:52800364-52800907	K562	blood:	n/a	n/a
42	GABPA	chr19:52800364-52800870	A549	lung:	n/a	n/a
43	GABPA	chr19:52800220-52801014	SK-N-SH	brain:	n/a	n/a
44	HCFC1	chr19:52800154-52800973	Hela-S3	cervix:	n/a	n/a
45	HEY1	chr19:52800351-52801420	K562	blood:	n/a	n/a
46	HEY1	chr19:52800379-52800965	HepG2	liver:	n/a	n/a
47	HEY1	chr19:52800371-52800968	K562	blood:	n/a	n/a
48	HEY1	chr19:52800347-52800751	HepG2	liver:	n/a	n/a
49	IRF1	chr19:52799928-52800649	K562	blood:	n/a	n/a
50	IRF1	chr19:52800197-52800840	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52800391-52800441	K562	blood:	n/a
2	chr19:52800391-52800441	RPTEC	kidney:	n/a
3	chr19:52800391-52800441	SK-N-SH_RA	brain:	n/a
4	chr19:52800391-52800441	BJ	skin:	n/a
5	chr19:52800391-52800441	ProgFib	skin:	n/a
6	chr19:52800385-52800435	U87	brain:	n/a
7	chr19:52800385-52800435	HCT-116	colon:	n/a
8	chr19:52800385-52800435	BJ	skin:	n/a
9	chr19:52800385-52800435	HCM	heart:	n/a
10	chr19:52800385-52800435	AG09309	skin:	n/a
11	chr19:52800391-52800441	AG09319	gingival:	n/a
12	chr19:52800391-52800441	AG10803	skin:	n/a
13	chr19:52800391-52800441	IMR90	lung:	fetal
14	chr19:52800385-52800435	HRCEpiC	kidney:	n/a
15	chr19:52800391-52800441	NT2-D1	testis:	n/a
16	chr19:52800391-52800441	PFSK-1	brain:	n/a
17	chr19:52800391-52800441	NB4	blood:	n/a
18	chr19:52800385-52800435	PANC-1	pancreas:	n/a
19	chr19:52800391-52800441	HUVEC	blood vessel:	n/a
20	chr19:52800391-52800441	HepG2	liver:	n/a
21	chr19:52800391-52800441	Jurkat	blood:	n/a
22	chr19:52800385-52800435	AG04450	lung:	fetal
23	chr19:52800391-52800441	HCF	heart:	n/a
24	chr19:52800385-52800435	HAEpiC	amniotic membrane:	n/a
25	chr19:52800385-52800435	HRPEpiC	eye:	n/a
26	chr19:52800391-52800441	HL-60	blood:	n/a
27	chr19:52800385-52800435	LNCaP	prostate:	n/a
28	chr19:52800391-52800441	HCPEpiC	choroid plexus:	n/a
29	chr19:52800385-52800435	GM19239	blood:	n/a
30	chr19:52800391-52800441	ECC-1	luminal epithelium:	n/a
31	chr19:52800391-52800441	HIPEpiC	eye:	n/a
32	chr19:52800391-52800441	H1-hESC	embryonic stem cell:	embryo
33	chr19:52800385-52800435	SK-N-SH_RA	brain:	n/a
34	chr19:52800391-52800441	AG04449	skin:	fetal
35	chr19:52800391-52800441	SKMC	muscle:	n/a
36	chr19:52800385-52800435	PrEC	prostate:	n/a
37	chr19:52800385-52800435	GM12878	blood:	n/a
38	chr19:52800391-52800441	NH-A	brain:	n/a
39	chr19:52800391-52800441	LNCaP	prostate:	n/a
40	chr19:52800385-52800435	IMR90	lung:	fetal
41	chr19:52800385-52800435	MCF10A-Er-Src	breast:	n/a
42	chr19:52800385-52800435	MCF-7	breast:	n/a
43	chr19:52800385-52800435	ovcar-3	ovarian:	n/a
44	chr19:52800385-52800435	Hepatocyte	liver:	n/a
45	chr19:52800391-52800441	GM06990	blood:	n/a
46	chr19:52800391-52800441	MCF-7	breast:	n/a
47	chr19:52800385-52800435	HNPCEpiC	eye:	n/a
48	chr19:52800391-52800441	PANC-1	pancreas:	n/a
49	chr19:52800391-52800441	HEK293	kidney:	embryo
50	chr19:52800385-52800435	NT2-D1	testis:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52772712..52774263-chr19:52799047..52800693,2	K562	blood:
2	chr19:52776723..52778376-chr19:52800239..52801922,2	K562	blood:
3	chr19:52799793..52802447-chr19:52803288..52807131,4	MCF-7	breast:
4	chr1:147400307..147400981-chr19:52800137..52800809,2	MCF-7	breast:
5	chr19:52799531..52802059-chr19:52803187..52805101,2	K562	blood:
6	chr19:52771362..52774263-chr19:52797982..52800693,2	K562	blood:
7	chr19:52771242..52774496-chr19:52796154..52801198,5	MCF-7	breast:
8	chr19:52772363..52775107-chr19:52799601..52802037,4	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF480	TF binding region
ZNF480	CpG island
ENSG00000196214	chromatin interactions
ENSG00000198464	chromatin interactions
ENSG00000188092	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 64 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117653975	chr19:52800396-52800397	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52792200-52800400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:52799600-52800800	Active TSS	Hela-S3	cervix
3	chr19:52799600-52800800	Active TSS	HSMMtube	muscle
4	chr19:52799600-52800800	Active TSS	K562	blood
5	chr19:52799600-52801000	Active TSS	Esophagus	oesophagus
6	chr19:52799600-52801000	Active TSS	Fetal Heart	heart
7	chr19:52799600-52801000	Active TSS	Gastric	stomach
8	chr19:52799600-52801000	Active TSS	Psoas Muscle	Psoas
9	chr19:52799600-52801000	Active TSS	Stomach Smooth Muscle	stomach
10	chr19:52799600-52801000	Active TSS	NH-A	brain
11	chr19:52799600-52801200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:52799600-52801200	Active TSS	Brain Hippocampus Middle	brain
13	chr19:52799600-52801200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:52799600-52801200	Active TSS	A549	lung
15	chr19:52799600-52801200	Active TSS	NHLF	lung
16	chr19:52799600-52801400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr19:52799600-52801400	Active TSS	Fetal Intestine Small	intestine
18	chr19:52799600-52801400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr19:52799600-52801400	Active TSS	GM12878-XiMat	blood
20	chr19:52799600-52801600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:52799600-52801600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr19:52799600-52801600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:52799600-52801600	Active TSS	Fetal Kidney	kidney
24	chr19:52799600-52801800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:52799600-52801800	Active TSS	Colonic Mucosa	Colon
26	chr19:52799800-52800600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr19:52799800-52800800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:52799800-52800800	Active TSS	Lung	lung
29	chr19:52799800-52800800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr19:52799800-52801000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:52799800-52801000	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr19:52799800-52801000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:52799800-52801000	Active TSS	Brain Angular Gyrus	brain
34	chr19:52799800-52801000	Active TSS	Duodenum Mucosa	Duodenum
35	chr19:52799800-52801000	Active TSS	Left Ventricle	heart
36	chr19:52799800-52801000	Active TSS	Pancreas	Pancrea
37	chr19:52799800-52801000	Bivalent/Poised TSS	HepG2	liver
38	chr19:52799800-52801200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:52799800-52801200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:52799800-52801200	Active TSS	Brain Substantia Nigra	brain
41	chr19:52799800-52801200	Active TSS	Fetal Lung	lung
42	chr19:52799800-52801200	Active TSS	Right Ventricle	heart
43	chr19:52799800-52801200	Active TSS	Small Intestine	intestine
44	chr19:52799800-52801200	Active TSS	HMEC	breast
45	chr19:52799800-52801400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:52799800-52801400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:52799800-52801400	Active TSS	Aorta	Aorta
48	chr19:52799800-52801400	Active TSS	Ovary	ovary
49	chr19:52799800-52801600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:52799800-52801600	Active TSS	HUES48 Cell Line	embryonic stem cell

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