Variant report

Variant	nsv912509
Chromosome Location	chr19:56367705-56379514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:305)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr19:56368555-56368853	GM12878	blood:	n/a	n/a
2	CTCF	chr19:56378429-56378458	MCF-7	breast:	n/a	n/a
3	CTCF	chr19:56373863-56373926	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr19:56372755-56372812	MCF-7	breast:	n/a	n/a
5	CTCF	chr19:56376627-56376650	GM13976	blood:	n/a	n/a
6	E2F4	chr19:56376472-56376516	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr19:56373530-56373857	GM12878	blood:	n/a	n/a
8	IRF4	chr19:56368521-56368818	GM12878	blood:	n/a	n/a
9	MEF2A	chr19:56368609-56368882	GM12878	blood:	n/a	n/a
10	MEF2C	chr19:56368514-56368871	GM12878	blood:	n/a	n/a
11	MYC	chr19:56378495-56378699	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr19:56378438-56378522	HUVEC	blood vessel:	n/a	n/a
13	MYC	chr19:56378530-56378566	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr19:56378395-56378419	A549	lung:	n/a	n/a
15	POLR2A	chr19:56378421-56378432	A549	lung:	n/a	n/a
16	POLR2A	chr19:56379491-56379597	MCF10A-Er-Src	breast:	n/a	n/a
17	SPI1	chr19:56368477-56368789	GM12878	blood:	n/a	n/a
18	TCF12	chr19:56368637-56368826	GM12878	blood:	n/a	n/a
19	ZBTB33	chr19:56373591-56374116	HepG2	liver:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56369602-56369652	HCT-116	colon:	n/a
2	chr19:56369522-56369572	PrEC	prostate:	n/a
3	chr19:56369522-56369572	Hela-S3	cervix:	n/a
4	chr19:56369416-56369466	NHBE	bronchial:	n/a
5	chr19:56369928-56369978	MCF-7	breast:	n/a
6	chr19:56369416-56369466	AG09309	skin:	n/a
7	chr19:56369416-56369466	HRPEpiC	eye:	n/a
8	chr19:56369416-56369466	T-47D	breast:	n/a
9	chr19:56369602-56369652	PFSK-1	brain:	n/a
10	chr19:56369416-56369466	IMR90	lung:	fetal
11	chr19:56369416-56369466	GM06990	blood:	n/a
12	chr19:56369416-56369466	RPTEC	kidney:	n/a
13	chr19:56367830-56367880	GM06990	blood:	n/a
14	chr19:56369522-56369572	HEEpiC	esophagus:	n/a
15	chr19:56367830-56367880	SKMC	muscle:	n/a
16	chr19:56367830-56367880	T-47D	breast:	n/a
17	chr19:56369928-56369978	ovcar-3	ovarian:	n/a
18	chr19:56369522-56369572	AG04449	skin:	fetal
19	chr19:56369602-56369652	BJ	skin:	n/a
20	chr19:56369602-56369652	Hela-S3	cervix:	n/a
21	chr19:56369416-56369466	NH-A	brain:	n/a
22	chr19:56369416-56369466	NT2-D1	testis:	n/a
23	chr19:56367830-56367880	HRCEpiC	kidney:	n/a
24	chr19:56369602-56369652	HPAEpiC	pulmonary alveolar:	n/a
25	chr19:56369602-56369652	HCPEpiC	choroid plexus:	n/a
26	chr19:56369522-56369572	SK-N-MC	brain:	n/a
27	chr19:56369928-56369978	SK-N-SH	brain:	n/a
28	chr19:56369602-56369652	NT2-D1	testis:	n/a
29	chr19:56369416-56369466	BE2_C	brain:	n/a
30	chr19:56369522-56369572	AG09319	gingival:	n/a
31	chr19:56369928-56369978	NB4	blood:	n/a
32	chr19:56367830-56367880	NB4	blood:	n/a
33	chr19:56367830-56367880	BE2_C	brain:	n/a
34	chr19:56369928-56369978	HNPCEpiC	eye:	n/a
35	chr19:56369416-56369466	AoSMC	blood vessel:	n/a
36	chr19:56367830-56367880	HCM	heart:	n/a
37	chr19:56367830-56367880	PrEC	prostate:	n/a
38	chr19:56369416-56369466	HCF	heart:	n/a
39	chr19:56369416-56369466	ProgFib	skin:	n/a
40	chr19:56369416-56369466	Hela-S3	cervix:	n/a
41	chr19:56369416-56369466	Caco-2	colon:	n/a
42	chr19:56369522-56369572	HCT-116	colon:	n/a
43	chr19:56367830-56367880	HEEpiC	esophagus:	n/a
44	chr19:56369928-56369978	GM12892	blood:	n/a
45	chr19:56369602-56369652	AG09309	skin:	n/a
46	chr19:56369416-56369466	HAEpiC	amniotic membrane:	n/a
47	chr19:56369522-56369572	HCPEpiC	choroid plexus:	n/a
48	chr19:56367830-56367880	U87	brain:	n/a
49	chr19:56369416-56369466	SKMC	muscle:	n/a
50	chr19:56369522-56369572	HIPEpiC	eye:	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: 362 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17710196	chr19:56367705-56367706	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs553189222	chr19:56367706-56367707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544267002	chr19:56367712-56367713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369464054	chr19:56367727-56367728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148941243	chr19:56367757-56367758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530191810	chr19:56367759-56367760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376162561	chr19:56367790-56367791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549205272	chr19:56367794-56367795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190768189	chr19:56367802-56367803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182101247	chr19:56367848-56367849	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs143658473	chr19:56367852-56367853	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs551680150	chr19:56367871-56367872	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs568557408	chr19:56367876-56367877	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs369587307	chr19:56367877-56367878	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs71182923	chr19:56367888-56367889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571434129	chr19:56367914-56367915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374100637	chr19:56367918-56367919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537064163	chr19:56367923-56367924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578012265	chr19:56367926-56367927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550133193	chr19:56367934-56367935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186822166	chr19:56367942-56367943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535903755	chr19:56367946-56367947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191659636	chr19:56367963-56367964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573432339	chr19:56367973-56367974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538836684	chr19:56367975-56367976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559239689	chr19:56367991-56367992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575816154	chr19:56368007-56368008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76112228	chr19:56368011-56368012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541030719	chr19:56368019-56368020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386811121	chr19:56368027-56368028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146535253	chr19:56368028-56368029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188320120	chr19:56368029-56368030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560545963	chr19:56368031-56368032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528320872	chr19:56368039-56368040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141307507	chr19:56368042-56368043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs36113692	chr19:56368071-56368072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530669608	chr19:56368073-56368074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370602158	chr19:56368074-56368075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566964336	chr19:56368081-56368082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561102872	chr19:56368082-56368083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111608889	chr19:56368087-56368088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376522467	chr19:56368088-56368089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11882339	chr19:56368094-56368095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113125142	chr19:56368101-56368102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558858534	chr19:56368104-56368105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575900013	chr19:56368108-56368109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373901098	chr19:56368126-56368127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374436947	chr19:56368127-56368128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564837098	chr19:56368145-56368146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62128164	chr19:56368160-56368161	Enhancers	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56364600-56372200	Enhancers	Primary B cells from peripheral blood	blood
2	chr19:56367400-56368200	Enhancers	GM12878-XiMat	blood
3	chr19:56368200-56368800	Weak transcription	GM12878-XiMat	blood
4	chr19:56368800-56369000	Active TSS	GM12878-XiMat	blood
5	chr19:56369000-56369200	Flanking Active TSS	GM12878-XiMat	blood
6	chr19:56369200-56369400	Enhancers	GM12878-XiMat	blood
7	chr19:56369400-56370200	ZNF genes & repeats	GM12878-XiMat	blood

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