Variant report

Variant	nsv579220
Chromosome Location	chr19:28492962-28705280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:623)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:28508411-28508510	K562	blood:	n/a	n/a
2	ATF2	chr19:28565484-28566197	GM12878	blood:	n/a	n/a
3	ATF2	chr19:28558630-28559212	GM12878	blood:	n/a	n/a
4	ATF2	chr19:28558788-28559212	GM12878	blood:	n/a	n/a
5	BACH1	chr19:28659382-28659758	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr19:28630936-28631459	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr19:28645019-28645318	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr19:28675884-28676303	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr19:28620847-28621142	GM12878	blood:	n/a	n/a
10	BATF	chr19:28561672-28561976	GM12878	blood:	n/a	n/a
11	BATF	chr19:28704471-28704642	GM12878	blood:	n/a	n/a
12	BATF	chr19:28558735-28559113	GM12878	blood:	n/a	n/a
13	BATF	chr19:28558746-28559077	GM12878	blood:	n/a	n/a
14	BCL11A	chr19:28565709-28565961	GM12878	blood:	n/a	n/a
15	BCL11A	chr19:28558773-28559078	GM12878	blood:	n/a	n/a
16	BCL11A	chr19:28565658-28565991	GM12878	blood:	n/a	n/a
17	BCL3	chr19:28565660-28566051	GM12878	blood:	n/a	n/a
18	BCL3	chr19:28525929-28526130	GM12878	blood:	n/a	n/a
19	BCL3	chr19:28565554-28566090	GM12878	blood:	n/a	n/a
20	BCL3	chr19:28558679-28559115	GM12878	blood:	n/a	chr19:28559075-28559084
21	BCL3	chr19:28558727-28558985	GM12878	blood:	n/a	n/a
22	BCLAF1	chr19:28565603-28566016	GM12878	blood:	n/a	n/a
23	BHLHE40	chr19:28558729-28559196	GM12878	blood:	n/a	n/a
24	BHLHE40	chr19:28565642-28566013	GM12878	blood:	n/a	n/a
25	BHLHE40	chr19:28501657-28501858	K562	blood:	n/a	n/a
26	BHLHE40	chr19:28563493-28563605	GM12878	blood:	n/a	n/a
27	CEBPB	chr19:28660078-28660395	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr19:28510387-28510609	A549	lung:	n/a	n/a
29	CEBPB	chr19:28628773-28628960	HepG2	liver:	n/a	n/a
30	CEBPB	chr19:28595281-28595325	HepG2	liver:	n/a	n/a
31	CEBPB	chr19:28512130-28512202	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr19:28530474-28530807	MCF-7	breast:	n/a	n/a
33	CEBPB	chr19:28540734-28541094	K562	blood:	n/a	chr19:28540900-28540911
34	CEBPB	chr19:28660131-28660738	H1-hESC	embryonic stem cell:	n/a	chr19:28660587-28660600
35	CEBPB	chr19:28531517-28531724	A549	lung:	n/a	chr19:28531625-28531636 chr19:28531625-28531636
36	CEBPB	chr19:28630980-28631069	HepG2	liver:	n/a	n/a
37	CEBPB	chr19:28630939-28631061	A549	lung:	n/a	n/a
38	CEBPB	chr19:28566976-28567198	IMR90	lung:	n/a	n/a
39	CEBPB	chr19:28611675-28611887	A549	lung:	n/a	chr19:28611785-28611796 chr19:28611785-28611798
40	CEBPB	chr19:28611746-28611804	HepG2	liver:	n/a	chr19:28611785-28611796 chr19:28611785-28611798
41	CEBPB	chr19:28566944-28567138	HepG2	liver:	n/a	n/a
42	CEBPB	chr19:28512031-28512307	A549	lung:	n/a	n/a
43	CEBPB	chr19:28659361-28659923	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr19:28512136-28512257	HepG2	liver:	n/a	n/a
45	CHD2	chr19:28499598-28499916	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr19:28558693-28559046	GM12878	blood:	n/a	n/a
47	CTCF	chr19:28586661-28586726	LNCaP	prostate:	n/a	chr19:28586708-28586717
48	CTCF	chr19:28699970-28699990	MCF-7	breast:	n/a	n/a
49	CTCF	chr19:28511860-28512010	RPTEC	kidney:	n/a	n/a
50	CTCF	chr19:28503377-28503517	GM20000	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:16839407..16842090-chr19:28624683..28626183,3	K562	blood:
2	chr19:28680087..28682353-chr19:28794682..28796557,2	K562	blood:
3	chr1:16840526..16842103-chr19:28624663..28626183,3	MCF-7	breast:
4	chr19:28620656..28621535-chr19:28781468..28781999,2	MCF-7	breast:
5	chr19:28557128..28559611-chr19:28575041..28577843,2	K562	blood:
6	chr19:28609870..28612320-chr19:28616012..28618985,2	MCF-7	breast:
7	chr19:28703800..28705380-chr19:28705878..28708794,2	K562	blood:
8	chr19:28609870..28612320-chr19:28616012..28618985,2	MCF-7	breast:
9	chr19:28589389..28592282-chr19:28594737..28596806,2	MCF-7	breast:
10	chr19:28591563..28594233-chr19:28595170..28598135,3	K562	blood:
11	chr19:28589389..28592282-chr19:28594737..28596806,2	MCF-7	breast:
12	chr1:16840532..16841068-chr19:28624683..28625183,2	HCT-116	colon:
13	chr19:28503418..28504150-chr19:28707502..28708498,2	MCF-7	breast:
14	chr19:28539840..28540682-chr5:3520532..3521075,2	MCF-7	breast:
15	chr1:17221200..17222946-chr19:28624663..28626183,2	MCF-7	breast:
16	chr1:16839413..16842090-chr19:28624683..28626183,5	K562	blood:
17	chr19:28631967..28634277-chr19:28635977..28638379,2	K562	blood:
18	chr19:28628445..28630645-chr19:28642784..28645040,2	MCF-7	breast:
19	chr19:28502331..28503989-chr19:28509235..28511001,2	MCF-7	breast:
20	chr19:28656068..28656843-chr5:162345672..162346446,2	MCF-7	breast:
21	chr19:28591563..28594233-chr19:28595170..28598135,3	K562	blood:
22	chr19:28631967..28634277-chr19:28635977..28638379,2	K562	blood:
23	chr19:28502331..28503989-chr19:28509235..28511001,2	MCF-7	breast:
24	chr19:28628445..28630645-chr19:28642784..28645040,2	MCF-7	breast:
25	chr19:28557128..28559611-chr19:28575041..28577843,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSTM2B-17	chr19:28614520-28614763	ENSG00000267509.1
2	lnc-VSTM2B-17	chr19:28613141-28613197	ENSG00000267509.1
3	lnc-VSTM2B-17	chr19:28556174-28556272	ENSG00000267509.1
4	lnc-VSTM2B-17	chr19:28616162-28616337	ENSG00000267509.1
5	lnc-VSTM2B-17	chr19:28616162-28616301	ENSG00000267509.1
6	lnc-VSTM2B-17	chr19:28614520-28614763	ENSG00000267509.1
7	lnc-VSTM2B-17	chr19:28556174-28556272	ENSG00000267509.1
8	lnc-VSTM2B-17	chr19:28613144-28613197	ENSG00000267509.1

No data

Variant related genes	Relation type
ENSG00000267509	TF binding region
ENSG00000207005	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000261135	chromatin interactions

Extended variants
information (count: 6252 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:6252 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552221152	chr19:28493622-28493623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570127705	chr19:28493628-28493629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371202243	chr19:28493638-28493639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78449056	chr19:28493643-28493644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549689897	chr19:28493644-28493645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568009017	chr19:28493649-28493650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548452748	chr19:28493734-28493735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79069907	chr19:28493754-28493755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140662749	chr19:28493854-28493855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117735219	chr19:28493868-28493869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534057695	chr19:28493894-28493895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191786951	chr19:28493900-28493901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143129902	chr19:28493909-28493910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577345772	chr19:28493926-28493927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528195331	chr19:28493951-28493952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556943174	chr19:28494009-28494010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544887469	chr19:28494010-28494011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74332996	chr19:28494022-28494023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117429996	chr19:28494027-28494028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183572908	chr19:28494029-28494030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527850355	chr19:28494047-28494048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79911295	chr19:28494053-28494054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76596416	chr19:28494103-28494104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189327994	chr19:28494117-28494118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549353277	chr19:28494118-28494119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567680674	chr19:28494148-28494149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539094145	chr19:28494163-28494164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552626283	chr19:28494255-28494256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547643825	chr19:28494274-28494275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565754950	chr19:28494369-28494370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539606563	chr19:28494433-28494434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370353162	chr19:28494453-28494454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73930146	chr19:28494572-28494573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538283264	chr19:28494641-28494642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182212778	chr19:28494678-28494679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574856999	chr19:28494682-28494683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542173849	chr19:28494705-28494706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73930147	chr19:28494747-28494748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7245902	chr19:28494758-28494759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147473754	chr19:28494760-28494761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73023500	chr19:28494788-28494789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs531312169	chr19:28494823-28494824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543070647	chr19:28494842-28494843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567296442	chr19:28494894-28494895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142937980	chr19:28494910-28494911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548164996	chr19:28494911-28494912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547411236	chr19:28494916-28494917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559578475	chr19:28494975-28494976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371814746	chr19:28495029-28495030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574935470	chr19:28495038-28495039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
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
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Astrocytoma	17387387	CNVD
renal disease	20603712	CNVD
Gastric cancer	16575401	CNVD
Ovarian cancer	19193619	CNVD
Medulloblastoma	19270706	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:28493600-28501200	Weak transcription	Right Atrium	heart
2	chr19:28499800-28500000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr19:28499800-28500200	Enhancers	NH-A	brain
4	chr19:28499800-28500600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:28499800-28500600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:28499800-28501400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:28500000-28500400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:28500000-28500600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:28500000-28500600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr19:28500000-28500600	Enhancers	HSMM	muscle
11	chr19:28500000-28501400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr19:28500000-28501400	Enhancers	HSMMtube	muscle
13	chr19:28500000-28501600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:28500000-28501600	Enhancers	Gastric	stomach
15	chr19:28500200-28500600	Flanking Active TSS	NH-A	brain
16	chr19:28500400-28501800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:28500600-28500800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr19:28500600-28501000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:28500600-28501400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:28500600-28501600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:28500600-28502400	Enhancers	NH-A	brain
22	chr19:28500800-28501000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr19:28501000-28501400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:28501000-28501400	Enhancers	Fetal Brain Male	brain
25	chr19:28501200-28501800	Enhancers	Right Atrium	heart
26	chr19:28501400-28501600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:28501600-28502200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:28501600-28503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:28501800-28503200	Weak transcription	Right Atrium	heart
30	chr19:28502000-28502200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:28503200-28503600	Enhancers	Right Atrium	heart
32	chr19:28503400-28503600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:28503600-28503800	Enhancers	GM12878-XiMat	blood
34	chr19:28503600-28504000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr19:28505600-28506600	Enhancers	GM12878-XiMat	blood
36	chr19:28506400-28506800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr19:28510000-28512400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:28510400-28512800	Enhancers	Dnd41	blood
39	chr19:28510800-28512400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr19:28511000-28512200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr19:28511000-28512400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:28511000-28513200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr19:28511200-28512400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr19:28511200-28513200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr19:28511400-28511600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:28511400-28512000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr19:28511400-28512000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:28511600-28512000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:28511600-28512400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:28511600-28514800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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