Variant report

Variant	nsv911464
Chromosome Location	chr19:23373200-23430436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:488)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr19:23395180-23395185	GM12878	blood:	n/a	n/a
2	CBX3	chr19:23405791-23406025	K562	blood:	n/a	n/a
3	CEBPB	chr19:23389389-23389722	HepG2	liver:	n/a	chr19:23389536-23389547
4	CEBPB	chr19:23389453-23389649	A549	lung:	n/a	chr19:23389536-23389547
5	CEBPB	chr19:23421826-23422021	A549	lung:	n/a	n/a
6	CEBPB	chr19:23406745-23406947	HepG2	liver:	n/a	chr19:23406918-23406931
7	CEBPB	chr19:23401084-23401234	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr19:23395011-23395106	HepG2	liver:	n/a	chr19:23395054-23395065
9	CEBPB	chr19:23389386-23389703	IMR90	lung:	n/a	chr19:23389536-23389547
10	CTCF	chr19:23405076-23405087	GM13976	blood:	n/a	n/a
11	CTCF	chr19:23376720-23376870	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr19:23408167-23408265	Lung_OC	lung:	n/a	n/a
13	CTCF	chr19:23395080-23395230	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr19:23386900-23387050	GM12869	blood:	n/a	chr19:23386963-23386976
15	CTCF	chr19:23420903-23420904	GM10248	blood:	n/a	n/a
16	E2F6	chr19:23386591-23386719	K562	blood:	n/a	n/a
17	FOXA2	chr19:23394930-23395164	HepG2	liver:	n/a	n/a
18	GATA2	chr19:23383075-23383254	K562	blood:	n/a	n/a
19	GATA3	chr19:23424536-23424723	SH-SY5Y	brain:	n/a	n/a
20	GTF2F1	chr19:23405738-23406096	H1-hESC	embryonic stem cell:	n/a	n/a
21	GTF2F1	chr19:23404042-23404237	H1-hESC	embryonic stem cell:	n/a	n/a
22	GTF2F1	chr19:23404985-23405095	H1-hESC	embryonic stem cell:	n/a	n/a
23	GTF2F1	chr19:23402945-23402993	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr19:23430234-23430345	HepG2	liver:	n/a	chr19:23430286-23430297
25	KAP1	chr19:23423915-23424861	HEK293	kidney:	n/a	n/a
26	KAP1	chr19:23405703-23406353	K562	blood:	n/a	n/a
27	KAP1	chr19:23424216-23424537	K562	blood:	n/a	n/a
28	KAP1	chr19:23405640-23406562	HEK293	kidney:	n/a	n/a
29	KAP1	chr19:23405636-23406890	U2OS	brain:	n/a	n/a
30	MAFK	chr19:23373794-23373926	HepG2	liver:	n/a	n/a
31	MAFK	chr19:23391147-23391218	HepG2	liver:	n/a	chr19:23391175-23391190 chr19:23391178-23391194 chr19:23391179-23391193 chr19:23391176-23391196
32	MAFK	chr19:23391011-23391224	HepG2	liver:	n/a	chr19:23391175-23391190 chr19:23391178-23391194 chr19:23391179-23391193 chr19:23391176-23391196
33	MAZ	chr19:23427004-23427041	HepG2	liver:	n/a	n/a
34	NR2F2	chr19:23383054-23383340	K562	blood:	n/a	n/a
35	POLR2A	chr19:23417805-23418001	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:23426384-23426528	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr19:23412098-23412145	MCF-7	breast:	n/a	n/a
38	POLR2A	chr19:23385919-23386123	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr19:23427536-23427545	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr19:23395051-23395197	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:23386826-23386879	MCF-7	breast:	n/a	n/a
42	POLR2A	chr19:23428577-23428922	HepG2	liver:	n/a	n/a
43	POLR2A	chr19:23427714-23427875	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr19:23400937-23401323	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr19:23399664-23399802	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr19:23387035-23387083	MCF-7	breast:	n/a	n/a
47	POLR2A	chr19:23401105-23401407	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr19:23423215-23423220	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:23411546-23411680	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr19:23395208-23395209	H1-hESC	embryonic stem cell:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:23386892-23386942	K562	blood:	n/a
2	chr19:23390590-23390640	Caco-2	colon:	n/a
3	chr19:23387068-23387118	HCPEpiC	choroid plexus:	n/a
4	chr19:23383482-23383532	HPAEpiC	pulmonary alveolar:	n/a
5	chr19:23383482-23383532	GM19239	blood:	n/a
6	chr19:23387133-23387183	ovcar-3	ovarian:	n/a
7	chr19:23387068-23387118	ProgFib	skin:	n/a
8	chr19:23387068-23387118	SKMC	muscle:	n/a
9	chr19:23387068-23387118	BJ	skin:	n/a
10	chr19:23387133-23387183	GM12891	blood:	n/a
11	chr19:23385934-23385984	CMK	blood:	n/a
12	chr19:23383482-23383532	PrEC	prostate:	n/a
13	chr19:23386892-23386942	H1-hESC	embryonic stem cell:	embryo
14	chr19:23386784-23386834	SKMC	muscle:	n/a
15	chr19:23386892-23386942	GM12878	blood:	n/a
16	chr19:23386892-23386942	GM12892	blood:	n/a
17	chr19:23390590-23390640	HCPEpiC	choroid plexus:	n/a
18	chr19:23386892-23386942	ECC-1	luminal epithelium:	n/a
19	chr19:23387068-23387118	PrEC	prostate:	n/a
20	chr19:23386784-23386834	NHDF-neo	bronchial:	n/a
21	chr19:23387068-23387118	GM06990	blood:	n/a
22	chr19:23386892-23386942	NH-A	brain:	n/a
23	chr19:23386650-23386700	HIPEpiC	eye:	n/a
24	chr19:23390590-23390640	GM06990	blood:	n/a
25	chr19:23386784-23386834	HUVEC	blood vessel:	n/a
26	chr19:23386892-23386942	HL-60	blood:	n/a
27	chr19:23386892-23386942	Hela-S3	cervix:	n/a
28	chr19:23387068-23387118	T-47D	breast:	n/a
29	chr19:23386784-23386834	PrEC	prostate:	n/a
30	chr19:23387133-23387183	PrEC	prostate:	n/a
31	chr19:23386892-23386942	MCF-7	breast:	n/a
32	chr19:23386892-23386942	BJ	skin:	n/a
33	chr19:23386784-23386834	NHBE	bronchial:	n/a
34	chr19:23386650-23386700	H1-hESC	embryonic stem cell:	embryo
35	chr19:23387068-23387118	Hepatocyte	liver:	n/a
36	chr19:23383482-23383532	SKMC	muscle:	n/a
37	chr19:23386650-23386700	HCPEpiC	choroid plexus:	n/a
38	chr19:23383482-23383532	ProgFib	skin:	n/a
39	chr19:23390590-23390640	AG09319	gingival:	n/a
40	chr19:23386892-23386942	NHBE	bronchial:	n/a
41	chr19:23386892-23386942	HCT-116	colon:	n/a
42	chr19:23385934-23385984	SAEC	small airway:	n/a
43	chr19:23386784-23386834	BE2_C	brain:	n/a
44	chr19:23387133-23387183	H1-hESC	embryonic stem cell:	embryo
45	chr19:23386650-23386700	HRPEpiC	eye:	n/a
46	chr19:23383482-23383532	H1-hESC	embryonic stem cell:	embryo
47	chr19:23387068-23387118	NHBE	bronchial:	n/a
48	chr19:23390590-23390640	HepG2	liver:	n/a
49	chr19:23385934-23385984	SK-N-SH	brain:	n/a
50	chr19:23387133-23387183	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:23426796..23428873-chr19:23431504..23433351,2	K562	blood:
2	chr19:23426796..23428873-chr19:23431504..23434558,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF724P-3	chr19:23406607-23406820	NR_045525
2	lnc-ZNF730-8	chr19:23419110-23419653	NONHSAT063864
3	lnc-ZNF724P-3	chr19:23414068-23414163	NR_045525
4	lnc-ZNF724P-3	chr19:23414969-23415095	NR_045525

No data

Variant related genes	Relation type
ENSG00000269471	TF binding region
ENSG00000268469	TF binding region
ENSG00000269471	CpG island
ENSG00000268469	CpG island
ENSG00000196081	chromatin interactions

Extended variants
information (count: 1720 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1720 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143835712	chr19:23383081-23383082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs548028608	chr19:23383087-23383088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374486096	chr19:23383094-23383095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566225890	chr19:23383111-23383112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs367826126	chr19:23383118-23383119	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201485431	chr19:23383136-23383137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200093533	chr19:23383145-23383146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs199930482	chr19:23383152-23383153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs554880524	chr19:23383158-23383159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138333418	chr19:23383160-23383161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs148163486	chr19:23383166-23383167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs552100521	chr19:23383173-23383174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs193107202	chr19:23383192-23383193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs183603605	chr19:23383196-23383197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs537488115	chr19:23383210-23383211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555319749	chr19:23383216-23383217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111657797	chr19:23383224-23383225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200126533	chr19:23383225-23383226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs573812105	chr19:23383248-23383249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs144988676	chr19:23383252-23383253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534753436	chr19:23383267-23383268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs9797894	chr19:23383274-23383275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs185500191	chr19:23383275-23383276	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs572250824	chr19:23383303-23383304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556464961	chr19:23383328-23383329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576232348	chr19:23383485-23383486	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs543461175	chr19:23383501-23383502	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs371641493	chr19:23383519-23383520	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs193144704	chr19:23385955-23385956	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs71357971	chr19:23385972-23385973	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs72232202	chr19:23385981-23385982	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs546831388	chr19:23386005-23386006	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs558485410	chr19:23386044-23386045	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs556507770	chr19:23386069-23386070	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs532246197	chr19:23386115-23386116	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs575008843	chr19:23386148-23386149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139901607	chr19:23386185-23386186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57842750	chr19:23386217-23386218	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576819452	chr19:23386324-23386325	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540814566	chr19:23386328-23386329	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs565476984	chr19:23386354-23386355	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs577445709	chr19:23386404-23386405	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373850130	chr19:23386423-23386424	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544640652	chr19:23386521-23386522	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562837628	chr19:23386524-23386525	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75624577	chr19:23386526-23386527	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200598208	chr19:23386629-23386630	Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs115844767	chr19:23386642-23386643	Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs138622010	chr19:23386649-23386650	Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs560559274	chr19:23386656-23386657	Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:985 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23386000-23386800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:23386200-23386600	Active TSS	Brain Anterior Caudate	brain
3	chr19:23386400-23386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:23386400-23386600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:23386400-23386600	Enhancers	Fetal Muscle Trunk	muscle
6	chr19:23386400-23386600	Enhancers	Ovary	ovary
7	chr19:23386400-23387200	Active TSS	Primary hematopoietic stem cells	blood
8	chr19:23386400-23387200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr19:23386400-23387400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:23386600-23386800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr19:23386600-23386800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:23386600-23386800	Active TSS	Right Ventricle	heart
13	chr19:23386600-23387000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr19:23386600-23387000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:23386600-23387000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:23386600-23387000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:23386600-23387000	Enhancers	Aorta	Aorta
18	chr19:23386600-23387000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr19:23386600-23387000	Active TSS	Colon Smooth Muscle	Colon
20	chr19:23386600-23387000	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr19:23386600-23387000	ZNF genes & repeats	Gastric	stomach
22	chr19:23386600-23387000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
23	chr19:23386600-23387000	Flanking Active TSS	Ovary	ovary
24	chr19:23386600-23387000	ZNF genes & repeats	Pancreas	Pancrea
25	chr19:23386600-23387000	Active TSS	Psoas Muscle	Psoas
26	chr19:23386600-23387200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:23386600-23387200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:23386600-23387200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr19:23386600-23387200	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr19:23386600-23387200	Active TSS	Brain Hippocampus Middle	brain
31	chr19:23386600-23387200	ZNF genes & repeats	Esophagus	oesophagus
32	chr19:23386600-23387200	ZNF genes & repeats	Lung	lung
33	chr19:23386600-23387200	Active TSS	Right Atrium	heart
34	chr19:23386600-23387200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr19:23386600-23387200	Active TSS	Stomach Smooth Muscle	stomach
36	chr19:23386600-23387200	Active TSS	Osteobl	bone
37	chr19:23386600-23387400	Active TSS	Adipose Nuclei	Adipose
38	chr19:23386600-23387400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr19:23386800-23387000	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr19:23386800-23387000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:23386800-23387000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:23386800-23387000	Flanking Active TSS	Right Ventricle	heart
43	chr19:23386800-23387200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:23386800-23387200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr19:23386800-23387200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr19:23387000-23387200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:23387000-23387200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:23387000-23387200	Active TSS	Ovary	ovary
49	chr19:23387000-23387200	Enhancers	Psoas Muscle	Psoas
50	chr19:23387200-23387400	Active TSS	Brain Anterior Caudate	brain

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