Variant report

Variant	esv3490906
Chromosome Location	chr19:56360790-56363988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
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	chr19:56361456-56362056	GM12878	blood:	n/a	n/a
3	EP300	chr19:56362226-56362450	GM12878	blood:	n/a	n/a
4	FOXM1	chr19:56361910-56362568	GM12878	blood:	n/a	n/a
5	GABPA	chr19:56361597-56361816	GM12878	blood:	n/a	n/a
6	GABPA	chr19:56361817-56361985	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	chr19:56361395-56362097	GM12891	blood:	n/a	n/a
11	POU2F2	chr19:56361380-56361863	GM12878	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56363105-56363155	ovcar-3	ovarian:	n/a
2	chr19:56361716-56361766	NT2-D1	testis:	n/a
3	chr19:56363105-56363155	T-47D	breast:	n/a
4	chr19:56361716-56361766	ECC-1	luminal epithelium:	n/a
5	chr19:56363105-56363155	AG04450	lung:	fetal
6	chr19:56363105-56363155	IMR90	lung:	fetal
7	chr19:56361716-56361766	HNPCEpiC	eye:	n/a
8	chr19:56361716-56361766	HPAEpiC	pulmonary alveolar:	n/a
9	chr19:56361716-56361766	SKMC	muscle:	n/a
10	chr19:56361716-56361766	HRE	kidney:	n/a
11	chr19:56363105-56363155	HRPEpiC	eye:	n/a
12	chr19:56361716-56361766	AG10803	skin:	n/a
13	chr19:56361716-56361766	H1-hESC	embryonic stem cell:	embryo
14	chr19:56363105-56363155	NT2-D1	testis:	n/a
15	chr19:56361716-56361766	AG04450	lung:	fetal
16	chr19:56363105-56363155	AG10803	skin:	n/a
17	chr19:56363105-56363155	NHDF-neo	bronchial:	n/a
18	chr19:56361716-56361766	AG04449	skin:	fetal
19	chr19:56363105-56363155	HEEpiC	esophagus:	n/a
20	chr19:56363105-56363155	Caco-2	colon:	n/a
21	chr19:56361716-56361766	NHDF-neo	bronchial:	n/a
22	chr19:56363105-56363155	PFSK-1	brain:	n/a
23	chr19:56361716-56361766	BJ	skin:	n/a
24	chr19:56363105-56363155	AG09319	gingival:	n/a
25	chr19:56361716-56361766	SK-N-SH	brain:	n/a
26	chr19:56361716-56361766	HIPEpiC	eye:	n/a
27	chr19:56363105-56363155	CMK	blood:	n/a
28	chr19:56363105-56363155	HepG2	liver:	n/a
29	chr19:56361716-56361766	HEK293	kidney:	embryo
30	chr19:56363105-56363155	HCT-116	colon:	n/a
31	chr19:56363105-56363155	HRE	kidney:	n/a
32	chr19:56363105-56363155	HRCEpiC	kidney:	n/a
33	chr19:56361716-56361766	HL-60	blood:	n/a
34	chr19:56363105-56363155	GM19239	blood:	n/a
35	chr19:56363105-56363155	AG04449	skin:	fetal
36	chr19:56361716-56361766	HUVEC	blood vessel:	n/a
37	chr19:56361716-56361766	HAEpiC	amniotic membrane:	n/a
38	chr19:56361716-56361766	HCM	heart:	n/a
39	chr19:56363105-56363155	SK-N-SH	brain:	n/a
40	chr19:56361716-56361766	RPTEC	kidney:	n/a
41	chr19:56361716-56361766	AG09309	skin:	n/a
42	chr19:56361716-56361766	MCF-7	breast:	n/a
43	chr19:56363105-56363155	HMEC	breast:	n/a
44	chr19:56361716-56361766	NB4	blood:	n/a
45	chr19:56363105-56363155	AG09309	skin:	n/a
46	chr19:56363105-56363155	HCM	heart:	n/a
47	chr19:56361716-56361766	K562	blood:	n/a
48	chr19:56361716-56361766	T-47D	breast:	n/a
49	chr19:56361716-56361766	GM06990	blood:	n/a
50	chr19:56361716-56361766	AG09319	gingival:	n/a

No data

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

Extended variants
information (count: 103 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189001034	chr19:56360799-56360800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs74624131	chr19:56360827-56360828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149929553	chr19:56360921-56360922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540032356	chr19:56360960-56360961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556943177	chr19:56360997-56360998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs77303305	chr19:56360998-56360999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs367874463	chr19:56361005-56361006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs535877634	chr19:56361024-56361025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555443451	chr19:56361030-56361031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181727118	chr19:56361037-56361038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541085503	chr19:56361053-56361054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564231634	chr19:56361082-56361083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576673307	chr19:56361119-56361120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs116592572	chr19:56361135-56361136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs114298915	chr19:56361137-56361138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572101766	chr19:56361142-56361143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375285518	chr19:56361156-56361157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186429159	chr19:56361164-56361165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs113393290	chr19:56361176-56361177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs527812342	chr19:56361177-56361178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs189276553	chr19:56361181-56361182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112532245	chr19:56361193-56361194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs454308	chr19:56361197-56361198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs408065	chr19:56361201-56361202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs144542133	chr19:56361217-56361218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs150793177	chr19:56361218-56361219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs139712918	chr19:56361219-56361220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs367704629	chr19:56361221-56361222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568027321	chr19:56361236-56361237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs74182577	chr19:56361237-56361238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs446746	chr19:56361238-56361239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs74182578	chr19:56361241-56361242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112909898	chr19:56361242-56361243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs111810148	chr19:56361256-56361257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs5828652	chr19:56361262-56361263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533594053	chr19:56361265-56361266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115666743	chr19:56361273-56361274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557829376	chr19:56361277-56361278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73935423	chr19:56361279-56361280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112703873	chr19:56361282-56361283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs369362696	chr19:56361283-56361284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs555740869	chr19:56361285-56361286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114955778	chr19:56361293-56361294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115933156	chr19:56361296-56361297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs113529533	chr19:56361299-56361300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113251537	chr19:56361302-56361303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs369496157	chr19:56361303-56361304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs5828653	chr19:56361317-56361318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112142024	chr19:56361320-56361321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs5028351	chr19:56361322-56361323	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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