Variant report

Variant	nsv1058235
Chromosome Location	chr19:56358215-56393182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:672)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:56384985-56385182	HepG2	liver:	n/a	n/a
2	CEBPB	chr19:56385000-56385192	K562	blood:	n/a	n/a
3	CREB1	chr19:56368555-56368853	GM12878	blood:	n/a	n/a
4	CTCF	chr19:56367060-56367210	GM12878	blood:	n/a	n/a
5	CTCF	chr19:56376627-56376650	GM13976	blood:	n/a	n/a
6	CTCF	chr19:56366525-56366565	Lung_OC	lung:	n/a	n/a
7	CTCF	chr19:56378429-56378458	MCF-7	breast:	n/a	n/a
8	CTCF	chr19:56361586-56361622	GM10266	blood:	n/a	n/a
9	CTCF	chr19:56372755-56372812	MCF-7	breast:	n/a	n/a
10	CTCF	chr19:56392140-56392290	Caco-2	colon:	n/a	n/a
11	CTCF	chr19:56373863-56373926	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr19:56359283-56359341	MCF-7	breast:	n/a	n/a
13	CTCF	chr19:56359262-56359360	MCF-7	breast:	n/a	n/a
14	E2F4	chr19:56376472-56376516	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr19:56373530-56373857	GM12878	blood:	n/a	n/a
16	EP300	chr19:56361456-56362056	GM12878	blood:	n/a	n/a
17	EP300	chr19:56362226-56362450	GM12878	blood:	n/a	n/a
18	FOXM1	chr19:56361910-56362568	GM12878	blood:	n/a	n/a
19	GABPA	chr19:56361817-56361985	GM12878	blood:	n/a	n/a
20	GABPA	chr19:56361597-56361816	GM12878	blood:	n/a	n/a
21	IRF4	chr19:56368521-56368818	GM12878	blood:	n/a	n/a
22	MAX	chr19:56393074-56393141	NB4	blood:	n/a	n/a
23	MAX	chr19:56390186-56390198	A549	lung:	n/a	n/a
24	MAZ	chr19:56389149-56389218	HepG2	liver:	n/a	n/a
25	MEF2A	chr19:56368609-56368882	GM12878	blood:	n/a	n/a
26	MEF2C	chr19:56368514-56368871	GM12878	blood:	n/a	n/a
27	MYC	chr19:56378530-56378566	HUVEC	blood vessel:	n/a	n/a
28	MYC	chr19:56378495-56378699	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr19:56359326-56359360	MCF-7	breast:	n/a	n/a
30	MYC	chr19:56378438-56378522	HUVEC	blood vessel:	n/a	n/a
31	NR3C1	chr19:56361376-56362023	A549	lung:	n/a	n/a
32	PAX5	chr19:56367235-56367402	GM12878	blood:	n/a	n/a
33	PAX5	chr19:56367191-56367493	GM12878	blood:	n/a	n/a
34	PAX5	chr19:56367062-56367582	GM12878	blood:	n/a	n/a
35	PAX5	chr19:56361296-56363196	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:56359352-56359357	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:56384927-56384969	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr19:56378395-56378419	A549	lung:	n/a	n/a
39	POLR2A	chr19:56378421-56378432	A549	lung:	n/a	n/a
40	POLR2A	chr19:56379491-56379597	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr19:56359090-56359363	MCF-7	breast:	n/a	n/a
42	POLR2A	chr19:56359113-56359360	MCF-7	breast:	n/a	n/a
43	POLR2A	chr19:56361480-56361631	GM12878	blood:	n/a	n/a
44	POU2F2	chr19:56361380-56361863	GM12878	blood:	n/a	n/a
45	POU2F2	chr19:56361395-56362097	GM12891	blood:	n/a	n/a
46	SIX5	chr19:56361397-56361593	K562	blood:	n/a	n/a
47	SP1	chr19:56361389-56362079	GM12878	blood:	n/a	n/a
48	SPI1	chr19:56366563-56366828	GM12878	blood:	n/a	n/a
49	SPI1	chr19:56368477-56368789	GM12878	blood:	n/a	n/a
50	SRF	chr19:56361710-56362007	GM12878	blood:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56369522-56369572	AG09319	gingival:	n/a
2	chr19:56369522-56369572	AG09319	gingival:	n/a
3	chr19:56361716-56361766	HCPEpiC	choroid plexus:	n/a
4	chr19:56369416-56369466	NHBE	bronchial:	n/a
5	chr19:56363105-56363155	AG09309	skin:	n/a
6	chr19:56363105-56363155	HRCEpiC	kidney:	n/a
7	chr19:56363105-56363155	AG10803	skin:	n/a
8	chr19:56361716-56361766	K562	blood:	n/a
9	chr19:56369522-56369572	RPTEC	kidney:	n/a
10	chr19:56361716-56361766	AG09319	gingival:	n/a
11	chr19:56369416-56369466	IMR90	lung:	fetal
12	chr19:56361716-56361766	SK-N-SH	brain:	n/a
13	chr19:56361716-56361766	HIPEpiC	eye:	n/a
14	chr19:56364183-56364233	GM12892	blood:	n/a
15	chr19:56369602-56369652	HAEpiC	amniotic membrane:	n/a
16	chr19:56369602-56369652	SKMC	muscle:	n/a
17	chr19:56367316-56367366	HL-60	blood:	n/a
18	chr19:56369928-56369978	AoSMC	blood vessel:	n/a
19	chr19:56367830-56367880	RPTEC	kidney:	n/a
20	chr19:56369602-56369652	BE2_C	brain:	n/a
21	chr19:56364183-56364233	IMR90	lung:	fetal
22	chr19:56369928-56369978	HL-60	blood:	n/a
23	chr19:56367316-56367366	GM06990	blood:	n/a
24	chr19:56369416-56369466	LNCaP	prostate:	n/a
25	chr19:56369416-56369466	K562	blood:	n/a
26	chr19:56363105-56363155	Caco-2	colon:	n/a
27	chr19:56367316-56367366	GM19239	blood:	n/a
28	chr19:56364183-56364233	NH-A	brain:	n/a
29	chr19:56369602-56369652	PANC-1	pancreas:	n/a
30	chr19:56369928-56369978	MCF10A-Er-Src	breast:	n/a
31	chr19:56369522-56369572	IMR90	lung:	fetal
32	chr19:56364183-56364233	NHBE	bronchial:	n/a
33	chr19:56367316-56367366	IMR90	lung:	fetal
34	chr19:56393163-56393213	HCM	heart:	n/a
35	chr19:56367316-56367366	BE2_C	brain:	n/a
36	chr19:56369522-56369572	A549	lung:	n/a
37	chr19:56366191-56366241	NHDF-neo	bronchial:	n/a
38	chr19:56363105-56363155	GM19239	blood:	n/a
39	chr19:56363105-56363155	HCPEpiC	choroid plexus:	n/a
40	chr19:56369522-56369572	Hepatocyte	liver:	n/a
41	chr19:56367316-56367366	CMK	blood:	n/a
42	chr19:56369522-56369572	T-47D	breast:	n/a
43	chr19:56369522-56369572	Jurkat	blood:	n/a
44	chr19:56366191-56366241	IMR90	lung:	fetal
45	chr19:56369416-56369466	HRPEpiC	eye:	n/a
46	chr19:56369602-56369652	PrEC	prostate:	n/a
47	chr19:56369602-56369652	HUVEC	blood vessel:	n/a
48	chr19:56393163-56393213	HMEC	breast:	n/a
49	chr19:56366191-56366241	NT2-D1	testis:	n/a
50	chr19:56369602-56369652	NHDF-neo	bronchial:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56373661..56375169-chr19:56376696..56378685,2	K562	blood:
2	chr19:56373661..56375169-chr19:56376696..56378685,2	K562	blood:

No data

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

Extended variants
information (count: 814 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:814 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542595518	chr19:56359407-56359408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs560450819	chr19:56359420-56359421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145410139	chr19:56359438-56359439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs10417674	chr19:56359440-56359441	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147829353	chr19:56359450-56359451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187295911	chr19:56359496-56359497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs148870469	chr19:56359501-56359502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs115106020	chr19:56359507-56359508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs536522254	chr19:56359551-56359552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs552700436	chr19:56359556-56359557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142724300	chr19:56359580-56359581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs151006950	chr19:56359619-56359620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558279169	chr19:56359621-56359622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs424621	chr19:56359633-56359634	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192238847	chr19:56359702-56359703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs140747965	chr19:56359712-56359713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs415855	chr19:56359744-56359745	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs402099	chr19:56359771-56359772	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10417215	chr19:56359802-56359803	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12609633	chr19:56359810-56359811	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10421934	chr19:56359825-56359826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563002518	chr19:56359839-56359840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111323262	chr19:56359843-56359844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531808297	chr19:56359853-56359854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145318996	chr19:56359879-56359880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs375545	chr19:56359907-56359908	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7258004	chr19:56359931-56359932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556754241	chr19:56360043-56360044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs183212679	chr19:56360047-56360048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs551421988	chr19:56360048-56360049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs534263238	chr19:56360063-56360064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs558115666	chr19:56360064-56360065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187952237	chr19:56360074-56360075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs537898945	chr19:56360115-56360116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75083593	chr19:56360143-56360144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs575017055	chr19:56360154-56360155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs144530281	chr19:56360179-56360180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs141552302	chr19:56360191-56360192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577595527	chr19:56360192-56360193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs6509964	chr19:56360203-56360204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs35524460	chr19:56360224-56360225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs147460223	chr19:56360240-56360241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11883174	chr19:56360257-56360258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs542271402	chr19:56360276-56360277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112285405	chr19:56360278-56360279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115383325	chr19:56360296-56360297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546456907	chr19:56360303-56360304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201807028	chr19:56360304-56360305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs193258190	chr19:56360317-56360318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs117569327	chr19:56360318-56360319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 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
5	chr19:56364600-56372200	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:56365200-56365400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:56366400-56366800	Enhancers	GM12878-XiMat	blood
8	chr19:56366800-56367000	Flanking Active TSS	GM12878-XiMat	blood
9	chr19:56367000-56367200	Enhancers	GM12878-XiMat	blood
10	chr19:56367200-56367400	Flanking Active TSS	GM12878-XiMat	blood
11	chr19:56367400-56368200	Enhancers	GM12878-XiMat	blood
12	chr19:56368200-56368800	Weak transcription	GM12878-XiMat	blood
13	chr19:56368800-56369000	Active TSS	GM12878-XiMat	blood
14	chr19:56369000-56369200	Flanking Active TSS	GM12878-XiMat	blood
15	chr19:56369200-56369400	Enhancers	GM12878-XiMat	blood
16	chr19:56369400-56370200	ZNF genes & repeats	GM12878-XiMat	blood
17	chr19:56382600-56384000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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