Variant report

Variant	nsv911558
Chromosome Location	chr19:28484676-28552750
allele	n/a
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	ATF1	chr19:28508411-28508510	K562	blood:	n/a	n/a
2	BCL3	chr19:28525929-28526130	GM12878	blood:	n/a	n/a
3	BHLHE40	chr19:28501657-28501858	K562	blood:	n/a	n/a
4	BHLHE40	chr19:28484544-28484743	GM12878	blood:	n/a	n/a
5	CEBPB	chr19:28490679-28490748	A549	lung:	n/a	n/a
6	CEBPB	chr19:28490646-28490735	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:28510387-28510609	A549	lung:	n/a	n/a
8	CEBPB	chr19:28512130-28512202	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr19:28540734-28541094	K562	blood:	n/a	chr19:28540900-28540911
10	CEBPB	chr19:28512136-28512257	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:28531517-28531724	A549	lung:	n/a	chr19:28531625-28531636 chr19:28531625-28531636
12	CEBPB	chr19:28512031-28512307	A549	lung:	n/a	n/a
13	CEBPB	chr19:28530474-28530807	MCF-7	breast:	n/a	n/a
14	CHD2	chr19:28499598-28499916	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr19:28503320-28503470	HepG2	liver:	n/a	n/a
16	CTCF	chr19:28503400-28503550	A549	lung:	n/a	chr19:28503532-28503540
17	CTCF	chr19:28503460-28503610	GM12868	blood:	n/a	chr19:28503532-28503540
18	CTCF	chr19:28503392-28503461	GM13977	blood:	n/a	n/a
19	CTCF	chr19:28511985-28511990	MCF-7	breast:	n/a	n/a
20	CTCF	chr19:28503220-28503675	H1-hESC	embryonic stem cell:	n/a	chr19:28503532-28503540
21	CTCF	chr19:28511940-28512090	HAc	cerebellar:	n/a	n/a
22	CTCF	chr19:28503360-28503510	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr19:28503380-28503530	GM12865	blood:	n/a	n/a
24	CTCF	chr19:28501400-28501550	GM12871	blood:	n/a	n/a
25	CTCF	chr19:28503400-28503550	GM12873	blood:	n/a	chr19:28503532-28503540
26	CTCF	chr19:28503360-28503510	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr19:28520110-28520173	Fibrobl	skin:	n/a	n/a
28	CTCF	chr19:28503424-28503493	A549	lung:	n/a	n/a
29	CTCF	chr19:28503380-28503530	HEK293	kidney:	n/a	n/a
30	CTCF	chr19:28503340-28503490	GM12865	blood:	n/a	n/a
31	CTCF	chr19:28503345-28503534	Gliobla	brain:	n/a	n/a
32	CTCF	chr19:28503320-28503470	AG10803	skin:	n/a	n/a
33	CTCF	chr19:28503460-28503610	HAc	cerebellar:	n/a	chr19:28503532-28503540
34	CTCF	chr19:28503273-28503632	K562	blood:	n/a	chr19:28503532-28503540
35	CTCF	chr19:28503400-28503550	HRE	kidney:	n/a	chr19:28503532-28503540
36	CTCF	chr19:28503360-28503510	GM12872	blood:	n/a	n/a
37	CTCF	chr19:28511860-28512010	RPTEC	kidney:	n/a	n/a
38	CTCF	chr19:28503382-28503527	GM12892	blood:	n/a	n/a
39	CTCF	chr19:28503380-28503530	GM12878	blood:	n/a	n/a
40	CTCF	chr19:28511940-28512090	GM06990	blood:	n/a	n/a
41	CTCF	chr19:28503360-28503510	GM12801	blood:	n/a	n/a
42	CTCF	chr19:28503360-28503551	MCF-7	breast:	n/a	chr19:28503532-28503540
43	CTCF	chr19:28503340-28503490	K562	blood:	n/a	n/a
44	CTCF	chr19:28503360-28503547	MCF-7	breast:	n/a	chr19:28503532-28503540
45	CTCF	chr19:28503320-28503470	HCT-116	colon:	n/a	n/a
46	CTCF	chr19:28503300-28503450	GM12866	blood:	n/a	n/a
47	CTCF	chr19:28503377-28503517	GM20000	blood:	n/a	n/a
48	CTCF	chr19:28503360-28503510	GM12866	blood:	n/a	n/a
49	CTCF	chr19:28503276-28503656	MCF-7	breast:	n/a	chr19:28503532-28503540
50	CTCF	chr19:28503340-28503490	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:28539840..28540682-chr5:3520532..3521075,2	MCF-7	breast:
2	chr19:28502331..28503989-chr19:28509235..28511001,2	MCF-7	breast:
3	chr19:28503418..28504150-chr19:28707502..28708498,2	MCF-7	breast:
4	chr19:28502331..28503989-chr19:28509235..28511001,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UQCRFS1-5	chr19:28491139-28491243	XLOC_013285
2	lnc-UQCRFS1-5	chr19:28491139-28491271	XLOC_013285

Variant related genes	Relation type
ENSG00000267509	TF binding region
SRPK1	miRNA target sites

Extended variants
information (count: 1400 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1400 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4805012	chr19:28484676-28484677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373660263	chr19:28484692-28484693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62115508	chr19:28484714-28484715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546872716	chr19:28484786-28484787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59872220	chr19:28484817-28484818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4805013	chr19:28484840-28484841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112584452	chr19:28484875-28484876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11377120	chr19:28484895-28484896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77996626	chr19:28484896-28484897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186955743	chr19:28485138-28485139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10500231	chr19:28485144-28485145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530432604	chr19:28485168-28485169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552615303	chr19:28485175-28485176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553834823	chr19:28485181-28485182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148249971	chr19:28485211-28485212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553223560	chr19:28485218-28485219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578123604	chr19:28485230-28485231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17771032	chr19:28485235-28485236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs562384802	chr19:28485336-28485337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192514543	chr19:28485421-28485422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542683800	chr19:28485432-28485433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560875047	chr19:28485451-28485452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576196607	chr19:28485522-28485523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184937620	chr19:28485644-28485645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544944261	chr19:28485645-28485646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35403667	chr19:28485706-28485707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565152135	chr19:28485721-28485722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532240762	chr19:28485739-28485740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550727381	chr19:28485750-28485751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76095855	chr19:28485765-28485766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75296982	chr19:28485784-28485785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188920056	chr19:28485807-28485808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567345213	chr19:28485839-28485840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112679793	chr19:28485868-28485869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35087499	chr19:28485873-28485874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369984155	chr19:28486000-28486001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184637678	chr19:28486007-28486008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571888911	chr19:28486073-28486074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113313438	chr19:28486101-28486102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200626347	chr19:28486102-28486103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71932010	chr19:28486108-28486109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112186897	chr19:28486113-28486114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200058462	chr19:28486121-28486122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201378200	chr19:28486123-28486124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78328875	chr19:28486127-28486128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199801819	chr19:28486128-28486129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61154136	chr19:28486141-28486142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71169722	chr19:28486143-28486144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113882660	chr19:28486147-28486148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200883909	chr19:28486148-28486149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:28475800-28484800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:28484800-28486000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:28486000-28488600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:28493600-28501200	Weak transcription	Right Atrium	heart
5	chr19:28499800-28500000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr19:28499800-28500200	Enhancers	NH-A	brain
7	chr19:28499800-28500600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:28499800-28500600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:28499800-28501400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:28500000-28500400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:28500000-28500600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:28500000-28500600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr19:28500000-28500600	Enhancers	HSMM	muscle
14	chr19:28500000-28501400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr19:28500000-28501400	Enhancers	HSMMtube	muscle
16	chr19:28500000-28501600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:28500000-28501600	Enhancers	Gastric	stomach
18	chr19:28500200-28500600	Flanking Active TSS	NH-A	brain
19	chr19:28500400-28501800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:28500600-28500800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr19:28500600-28501000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:28500600-28501400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:28500600-28501600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:28500600-28502400	Enhancers	NH-A	brain
25	chr19:28500800-28501000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr19:28501000-28501400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:28501000-28501400	Enhancers	Fetal Brain Male	brain
28	chr19:28501200-28501800	Enhancers	Right Atrium	heart
29	chr19:28501400-28501600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:28501600-28502200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:28501600-28503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:28501800-28503200	Weak transcription	Right Atrium	heart
33	chr19:28502000-28502200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:28503200-28503600	Enhancers	Right Atrium	heart
35	chr19:28503400-28503600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:28503600-28503800	Enhancers	GM12878-XiMat	blood
37	chr19:28503600-28504000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr19:28505600-28506600	Enhancers	GM12878-XiMat	blood
39	chr19:28506400-28506800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr19:28510000-28512400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:28510400-28512800	Enhancers	Dnd41	blood
42	chr19:28510800-28512400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr19:28511000-28512200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr19:28511000-28512400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:28511000-28513200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr19:28511200-28512400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr19:28511200-28513200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr19:28511400-28511600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:28511400-28512000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr19:28511400-28512000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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