Variant report

Variant	esv3490908
Chromosome Location	chr19:56359940-56364338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:56361586-56361622	GM10266	blood:	n/a	n/a
2	EP300	chr19:56362226-56362450	GM12878	blood:	n/a	n/a
3	EP300	chr19:56361456-56362056	GM12878	blood:	n/a	n/a
4	FOXM1	chr19:56361910-56362568	GM12878	blood:	n/a	n/a
5	GABPA	chr19:56361817-56361985	GM12878	blood:	n/a	n/a
6	GABPA	chr19:56361597-56361816	GM12878	blood:	n/a	n/a
7	NR3C1	chr19:56361376-56362023	A549	lung:	n/a	n/a
8	PAX5	chr19:56361296-56363196	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:56361480-56361631	GM12878	blood:	n/a	n/a
10	POU2F2	chr19:56361380-56361863	GM12878	blood:	n/a	n/a
11	POU2F2	chr19:56361395-56362097	GM12891	blood:	n/a	n/a
12	SIX5	chr19:56361397-56361593	K562	blood:	n/a	n/a
13	SP1	chr19:56361389-56362079	GM12878	blood:	n/a	n/a
14	SRF	chr19:56361710-56362007	GM12878	blood:	n/a	n/a
15	TAF1	chr19:56361362-56362062	GM12892	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56364183-56364233	NH-A	brain:	n/a
2	chr19:56364183-56364233	HNPCEpiC	eye:	n/a
3	chr19:56363105-56363155	AG10803	skin:	n/a
4	chr19:56364183-56364233	MCF-7	breast:	n/a
5	chr19:56364183-56364233	K562	blood:	n/a
6	chr19:56361716-56361766	HIPEpiC	eye:	n/a
7	chr19:56361716-56361766	Caco-2	colon:	n/a
8	chr19:56361716-56361766	BE2_C	brain:	n/a
9	chr19:56361716-56361766	AG09319	gingival:	n/a
10	chr19:56363105-56363155	BE2_C	brain:	n/a
11	chr19:56363105-56363155	HepG2	liver:	n/a
12	chr19:56361716-56361766	HEK293	kidney:	embryo
13	chr19:56363105-56363155	AG09319	gingival:	n/a
14	chr19:56364183-56364233	H1-hESC	embryonic stem cell:	embryo
15	chr19:56361716-56361766	PANC-1	pancreas:	n/a
16	chr19:56361716-56361766	AoSMC	blood vessel:	n/a
17	chr19:56361716-56361766	IMR90	lung:	fetal
18	chr19:56361716-56361766	HPAEpiC	pulmonary alveolar:	n/a
19	chr19:56361716-56361766	K562	blood:	n/a
20	chr19:56364183-56364233	NHBE	bronchial:	n/a
21	chr19:56361716-56361766	GM12878	blood:	n/a
22	chr19:56364183-56364233	HAEpiC	amniotic membrane:	n/a
23	chr19:56364183-56364233	GM12891	blood:	n/a
24	chr19:56363105-56363155	Jurkat	blood:	n/a
25	chr19:56364183-56364233	AG04449	skin:	fetal
26	chr19:56361716-56361766	NHBE	bronchial:	n/a
27	chr19:56361716-56361766	HRCEpiC	kidney:	n/a
28	chr19:56364183-56364233	HCF	heart:	n/a
29	chr19:56364183-56364233	SK-N-MC	brain:	n/a
30	chr19:56361716-56361766	NH-A	brain:	n/a
31	chr19:56363105-56363155	NH-A	brain:	n/a
32	chr19:56363105-56363155	HCF	heart:	n/a
33	chr19:56364183-56364233	HL-60	blood:	n/a
34	chr19:56364183-56364233	MCF10A-Er-Src	breast:	n/a
35	chr19:56363105-56363155	NT2-D1	testis:	n/a
36	chr19:56361716-56361766	NB4	blood:	n/a
37	chr19:56364183-56364233	HEK293	kidney:	embryo
38	chr19:56361716-56361766	SK-N-SH_RA	brain:	n/a
39	chr19:56361716-56361766	HCM	heart:	n/a
40	chr19:56363105-56363155	Hepatocyte	liver:	n/a
41	chr19:56363105-56363155	MCF10A-Er-Src	breast:	n/a
42	chr19:56364183-56364233	GM19239	blood:	n/a
43	chr19:56363105-56363155	HCT-116	colon:	n/a
44	chr19:56363105-56363155	RPTEC	kidney:	n/a
45	chr19:56364183-56364233	HIPEpiC	eye:	n/a
46	chr19:56364183-56364233	GM12892	blood:	n/a
47	chr19:56364183-56364233	HCM	heart:	n/a
48	chr19:56363105-56363155	SKMC	muscle:	n/a
49	chr19:56363105-56363155	H1-hESC	embryonic stem cell:	embryo
50	chr19:56363105-56363155	T-47D	breast:	n/a

No data

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

Extended variants
information (count: 181 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556754241	chr19:56360043-56360044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183212679	chr19:56360047-56360048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs551421988	chr19:56360048-56360049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs534263238	chr19:56360063-56360064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs558115666	chr19:56360064-56360065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187952237	chr19:56360074-56360075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537898945	chr19:56360115-56360116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75083593	chr19:56360143-56360144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575017055	chr19:56360154-56360155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs144530281	chr19:56360179-56360180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs141552302	chr19:56360191-56360192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577595527	chr19:56360192-56360193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs6509964	chr19:56360203-56360204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35524460	chr19:56360224-56360225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147460223	chr19:56360240-56360241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs11883174	chr19:56360257-56360258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs542271402	chr19:56360276-56360277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112285405	chr19:56360278-56360279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115383325	chr19:56360296-56360297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs546456907	chr19:56360303-56360304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201807028	chr19:56360304-56360305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs193258190	chr19:56360317-56360318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117569327	chr19:56360318-56360319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs532245251	chr19:56360319-56360320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs535274906	chr19:56360323-56360324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568473217	chr19:56360329-56360330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs570228652	chr19:56360333-56360334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115427219	chr19:56360385-56360386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184147095	chr19:56360418-56360419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs568038240	chr19:56360421-56360422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs6509965	chr19:56360431-56360432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143927513	chr19:56360442-56360443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs572064762	chr19:56360472-56360473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs577635832	chr19:56360493-56360494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs60189506	chr19:56360496-56360497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556609605	chr19:56360497-56360498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576426040	chr19:56360500-56360501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs541854786	chr19:56360517-56360518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556518421	chr19:56360544-56360545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs562238477	chr19:56360550-56360551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545859455	chr19:56360578-56360579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs557500855	chr19:56360599-56360600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540055323	chr19:56360623-56360624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576070693	chr19:56360638-56360639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs559867694	chr19:56360654-56360655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7258704	chr19:56360663-56360664	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544964305	chr19:56360677-56360678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs563177396	chr19:56360688-56360689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552092252	chr19:56360695-56360696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189509426	chr19:56360714-56360715	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56359400-56361200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:56360400-56361000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:56360400-56361400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:56363400-56364600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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