Variant report

Variant	nsv544088
Chromosome Location	chr19:56331762-56369132
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	CBX3	chr19:56347744-56348093	K562	blood:	n/a	n/a
2	CEBPB	chr19:56342129-56342342	K562	blood:	n/a	n/a
3	CEBPB	chr19:56341826-56342415	HCT-116	colon:	n/a	n/a
4	CEBPB	chr19:56341872-56342423	HCT-116	colon:	n/a	n/a
5	CEBPB	chr19:56342114-56342249	K562	blood:	n/a	n/a
6	CEBPB	chr19:56342021-56342353	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr19:56342078-56342348	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:56344099-56344348	A549	lung:	n/a	n/a
9	CREB1	chr19:56368555-56368853	GM12878	blood:	n/a	n/a
10	CTCF	chr19:56359283-56359341	MCF-7	breast:	n/a	n/a
11	CTCF	chr19:56361586-56361622	GM10266	blood:	n/a	n/a
12	CTCF	chr19:56359262-56359360	MCF-7	breast:	n/a	n/a
13	CTCF	chr19:56366525-56366565	Lung_OC	lung:	n/a	n/a
14	CTCF	chr19:56367060-56367210	GM12878	blood:	n/a	n/a
15	E2F6	chr19:56347750-56348013	K562	blood:	n/a	chr19:56347894-56347903 chr19:56347850-56347859
16	EBF1	chr19:56332910-56333204	GM12878	blood:	n/a	n/a
17	ELF1	chr19:56347699-56348090	K562	blood:	n/a	n/a
18	EP300	chr19:56341997-56342300	K562	blood:	n/a	n/a
19	EP300	chr19:56361456-56362056	GM12878	blood:	n/a	n/a
20	EP300	chr19:56362226-56362450	GM12878	blood:	n/a	n/a
21	FOXA1	chr19:56334071-56334328	HepG2	liver:	n/a	n/a
22	FOXA2	chr19:56333882-56334592	A549	lung:	n/a	n/a
23	FOXM1	chr19:56361910-56362568	GM12878	blood:	n/a	n/a
24	GABPA	chr19:56361597-56361816	GM12878	blood:	n/a	n/a
25	GABPA	chr19:56361817-56361985	GM12878	blood:	n/a	n/a
26	IRF4	chr19:56368521-56368818	GM12878	blood:	n/a	n/a
27	JUN	chr19:56347825-56347971	K562	blood:	n/a	chr19:56347852-56347861 chr19:56347929-56347937 chr19:56347928-56347938 chr19:56347927-56347939 chr19:56347926-56347934
28	JUN	chr19:56355961-56356072	HepG2	liver:	n/a	chr19:56356003-56356016
29	JUND	chr19:56355865-56356146	HepG2	liver:	n/a	n/a
30	JUND	chr19:56347784-56348072	K562	blood:	n/a	chr19:56347852-56347861 chr19:56347929-56347937 chr19:56347928-56347938 chr19:56347927-56347939 chr19:56347926-56347934
31	MAFF	chr19:56342042-56342286	HepG2	liver:	n/a	chr19:56342165-56342183
32	MAFF	chr19:56347779-56348078	K562	blood:	n/a	n/a
33	MAFK	chr19:56350683-56350912	HepG2	liver:	n/a	chr19:56350794-56350809
34	MAFK	chr19:56350751-56350832	HepG2	liver:	n/a	chr19:56350794-56350809
35	MAFK	chr19:56342043-56342260	HepG2	liver:	n/a	chr19:56342168-56342179 chr19:56342168-56342179
36	MAFK	chr19:56347776-56348050	K562	blood:	n/a	chr19:56347930-56347939
37	MAFK	chr19:56342026-56342311	HepG2	liver:	n/a	chr19:56342168-56342179 chr19:56342168-56342179
38	MAFK	chr19:56347911-56347951	HepG2	liver:	n/a	chr19:56347930-56347939
39	MAX	chr19:56347804-56348040	K562	blood:	n/a	n/a
40	MAX	chr19:56347783-56348100	K562	blood:	n/a	n/a
41	MAX	chr19:56347766-56348071	K562	blood:	n/a	n/a
42	MEF2A	chr19:56368609-56368882	GM12878	blood:	n/a	n/a
43	MEF2C	chr19:56368514-56368871	GM12878	blood:	n/a	n/a
44	MYC	chr19:56347797-56347868	K562	blood:	n/a	n/a
45	MYC	chr19:56359326-56359360	MCF-7	breast:	n/a	n/a
46	MYC	chr19:56349203-56349219	GM12878	blood:	n/a	n/a
47	MYC	chr19:56342203-56342208	K562	blood:	n/a	n/a
48	MYC	chr19:56342823-56342885	MCF-7	breast:	n/a	n/a
49	NFYA	chr19:56347753-56348022	K562	blood:	n/a	chr19:56347848-56347861 chr19:56347848-56347862 chr19:56347821-56347833 chr19:56347847-56347859
50	NFYB	chr19:56347717-56348060	K562	blood:	n/a	chr19:56347848-56347861 chr19:56347848-56347862 chr19:56347821-56347833 chr19:56347847-56347859

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56363105-56363155	Caco-2	colon:	n/a
2	chr19:56347927-56347977	SK-N-SH_RA	brain:	n/a
3	chr19:56364183-56364233	HPAEpiC	pulmonary alveolar:	n/a
4	chr19:56348216-56348266	Hela-S3	cervix:	n/a
5	chr19:56363105-56363155	MCF-7	breast:	n/a
6	chr19:56347870-56347920	Hela-S3	cervix:	n/a
7	chr19:56342665-56342715	MCF-7	breast:	n/a
8	chr19:56366191-56366241	AG10803	skin:	n/a
9	chr19:56349119-56349169	NHDF-neo	bronchial:	n/a
10	chr19:56348216-56348266	GM12878	blood:	n/a
11	chr19:56342665-56342715	RPTEC	kidney:	n/a
12	chr19:56346743-56346793	SAEC	small airway:	n/a
13	chr19:56346628-56346678	HRPEpiC	eye:	n/a
14	chr19:56346628-56346678	HCM	heart:	n/a
15	chr19:56347771-56347821	HCM	heart:	n/a
16	chr19:56347771-56347821	AoSMC	blood vessel:	n/a
17	chr19:56342665-56342715	SAEC	small airway:	n/a
18	chr19:56347847-56347897	GM06990	blood:	n/a
19	chr19:56347870-56347920	MCF-7	breast:	n/a
20	chr19:56342665-56342715	NH-A	brain:	n/a
21	chr19:56346628-56346678	PFSK-1	brain:	n/a
22	chr19:56348216-56348266	SK-N-SH_RA	brain:	n/a
23	chr19:56347870-56347920	NHDF-neo	bronchial:	n/a
24	chr19:56367316-56367366	SK-N-MC	brain:	n/a
25	chr19:56361716-56361766	AG09319	gingival:	n/a
26	chr19:56367830-56367880	HCF	heart:	n/a
27	chr19:56361716-56361766	AG09309	skin:	n/a
28	chr19:56367316-56367366	LNCaP	prostate:	n/a
29	chr19:56349119-56349169	Hepatocyte	liver:	n/a
30	chr19:56342665-56342715	MCF10A-Er-Src	breast:	n/a
31	chr19:56342665-56342715	A549	lung:	n/a
32	chr19:56367830-56367880	T-47D	breast:	n/a
33	chr19:56347927-56347977	HepG2	liver:	n/a
34	chr19:56347927-56347977	GM19239	blood:	n/a
35	chr19:56347722-56347772	HCF	heart:	n/a
36	chr19:56364183-56364233	T-47D	breast:	n/a
37	chr19:56348889-56348939	NHBE	bronchial:	n/a
38	chr19:56348216-56348266	HepG2	liver:	n/a
39	chr19:56349119-56349169	HUVEC	blood vessel:	n/a
40	chr19:56348216-56348266	LNCaP	prostate:	n/a
41	chr19:56342665-56342715	NT2-D1	testis:	n/a
42	chr19:56347870-56347920	SKMC	muscle:	n/a
43	chr19:56367316-56367366	ECC-1	luminal epithelium:	n/a
44	chr19:56348742-56348792	SKMC	muscle:	n/a
45	chr19:56367316-56367366	ProgFib	skin:	n/a
46	chr19:56348889-56348939	HEEpiC	esophagus:	n/a
47	chr19:56367830-56367880	PFSK-1	brain:	n/a
48	chr19:56349119-56349169	SK-N-SH	brain:	n/a
49	chr19:56367830-56367880	HCPEpiC	choroid plexus:	n/a
50	chr19:56367830-56367880	HPAEpiC	pulmonary alveolar:	n/a

Variant related genes	Relation type
NLRP11	TF binding region
NLRP4	TF binding region
NLRP11	CpG island
NLRP4	CpG island

Extended variants
information (count: 792 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370314959	chr19:56331776-56331777	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191663949	chr19:56331797-56331798	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375386946	chr19:56331820-56331821	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541544130	chr19:56331832-56331833	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561785486	chr19:56331846-56331847	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373043677	chr19:56331869-56331870	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527390032	chr19:56331881-56331882	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548019125	chr19:56331888-56331889	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2112827	chr19:56331905-56331906	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7259889	chr19:56331911-56331912	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184974022	chr19:56331918-56331919	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550463747	chr19:56331933-56331934	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2112826	chr19:56331935-56331936	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs535802802	chr19:56332018-56332019	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374670244	chr19:56332025-56332026	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549507087	chr19:56332026-56332027	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368400110	chr19:56332037-56332038	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58906242	chr19:56332049-56332050	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10560594	chr19:56332053-56332054	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546827459	chr19:56332104-56332105	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553959419	chr19:56332120-56332121	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs386811116	chr19:56332137-56332138	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2616951	chr19:56332139-56332140	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114609416	chr19:56332141-56332142	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs574113904	chr19:56332158-56332159	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs79301205	chr19:56332176-56332177	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs117478805	chr19:56332178-56332179	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs34132451	chr19:56332199-56332200	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555068067	chr19:56332217-56332218	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs5828649	chr19:56332223-56332224	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536238909	chr19:56332243-56332244	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs2616950	chr19:56332270-56332271	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs2547268	chr19:56332289-56332290	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74467178	chr19:56332331-56332332	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34774826	chr19:56332347-56332348	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201487301	chr19:56332352-56332353	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375136022	chr19:56332353-56332354	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2164657	chr19:56332374-56332375	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs371811141	chr19:56332391-56332392	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150844740	chr19:56332487-56332488	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146995362	chr19:56332556-56332557	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564266986	chr19:56332570-56332571	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2086096	chr19:56332571-56332572	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74181752	chr19:56332572-56332573	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76720441	chr19:56332573-56332574	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79830148	chr19:56332575-56332576	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111761029	chr19:56332577-56332578	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112456064	chr19:56332579-56332580	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4801632	chr19:56332580-56332581	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141604806	chr19:56332604-56332605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56329600-56334200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr19:56330200-56331800	Flanking Active TSS	GM12878-XiMat	blood
3	chr19:56330200-56332000	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:56331200-56331800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr19:56331800-56332600	Enhancers	GM12878-XiMat	blood
6	chr19:56333400-56334000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr19:56333800-56334200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:56333800-56334200	Active TSS	Primary T cells fromperipheralblood	blood
9	chr19:56342200-56342600	Active TSS	HSMM	muscle
10	chr19:56347600-56348200	Active TSS	A549	lung
11	chr19:56357800-56358000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:56359400-56361200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:56360400-56361000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:56360400-56361400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr19:56363400-56364600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr19:56364600-56372200	Enhancers	Primary B cells from peripheral blood	blood
17	chr19:56365200-56365400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:56366400-56366800	Enhancers	GM12878-XiMat	blood
19	chr19:56366800-56367000	Flanking Active TSS	GM12878-XiMat	blood
20	chr19:56367000-56367200	Enhancers	GM12878-XiMat	blood
21	chr19:56367200-56367400	Flanking Active TSS	GM12878-XiMat	blood
22	chr19:56367400-56368200	Enhancers	GM12878-XiMat	blood
23	chr19:56368200-56368800	Weak transcription	GM12878-XiMat	blood
24	chr19:56368800-56369000	Active TSS	GM12878-XiMat	blood
25	chr19:56369000-56369200	Flanking Active TSS	GM12878-XiMat	blood

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