Variant report

Variant	nsv912508
Chromosome Location	chr19:56364290-56436840
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	BATF	chr19:56404597-56404754	GM12878	blood:	n/a	n/a
2	BCL11A	chr19:56404601-56404738	GM12878	blood:	n/a	n/a
3	BCL11A	chr19:56404582-56404766	GM12878	blood:	n/a	n/a
4	CEBPB	chr19:56406673-56406772	HepG2	liver:	n/a	chr19:56406697-56406708
5	CEBPB	chr19:56385000-56385192	K562	blood:	n/a	n/a
6	CEBPB	chr19:56413977-56414273	K562	blood:	n/a	chr19:56414104-56414121 chr19:56414107-56414118 chr19:56414109-56414120 chr19:56414107-56414120 chr19:56414107-56414120
7	CEBPB	chr19:56413999-56414214	HepG2	liver:	n/a	chr19:56414104-56414121 chr19:56414107-56414118 chr19:56414109-56414120 chr19:56414107-56414120 chr19:56414107-56414120
8	CEBPB	chr19:56384985-56385182	HepG2	liver:	n/a	n/a
9	CREB1	chr19:56410261-56410516	A549	lung:	n/a	n/a
10	CREB1	chr19:56368555-56368853	GM12878	blood:	n/a	n/a
11	CTCF	chr19:56425120-56425270	HCFaa	heart:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
12	CTCF	chr19:56425200-56425350	GM12868	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
13	CTCF	chr19:56425220-56425370	GM12869	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
14	CTCF	chr19:56425300-56425450	BE2_C	brain:	n/a	n/a
15	CTCF	chr19:56425080-56425230	GM12872	blood:	n/a	n/a
16	CTCF	chr19:56425160-56425310	GM12873	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
17	CTCF	chr19:56425200-56425350	GM12867	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
18	CTCF	chr19:56425140-56425290	GM12869	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
19	CTCF	chr19:56425122-56425378	MCF-7	breast:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
20	CTCF	chr19:56425220-56425370	GM12874	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
21	CTCF	chr19:56425088-56425391	GM12878	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
22	CTCF	chr19:56425180-56425330	A549	lung:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
23	CTCF	chr19:56425160-56425310	GM12864	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
24	CTCF	chr19:56425120-56425373	MCF-7	breast:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
25	CTCF	chr19:56425285-56425295	GM20000	blood:	n/a	n/a
26	CTCF	chr19:56425147-56425346	GM12891	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
27	CTCF	chr19:56404670-56404702	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr19:56425120-56425270	GM12871	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
29	CTCF	chr19:56425180-56425330	GM06990	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
30	CTCF	chr19:56366525-56366565	Lung_OC	lung:	n/a	n/a
31	CTCF	chr19:56425104-56425414	K562	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
32	CTCF	chr19:56425077-56425400	K562	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
33	CTCF	chr19:56425009-56425538	HCT-116	colon:	n/a	chr19:56425239-56425257 chr19:56425065-56425073 chr19:56425242-56425255
34	CTCF	chr19:56425129-56425360	Hela-S3	cervix:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
35	CTCF	chr19:56425143-56425337	A549	lung:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
36	CTCF	chr19:56425180-56425330	GM12866	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
37	CTCF	chr19:56425071-56425360	K562	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
38	CTCF	chr19:56425140-56425290	NB4	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
39	CTCF	chr19:56425120-56425270	HL-60	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
40	CTCF	chr19:56425160-56425310	MCF-7	breast:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
41	CTCF	chr19:56425120-56425270	Caco-2	colon:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
42	CTCF	chr19:56392140-56392290	Caco-2	colon:	n/a	n/a
43	CTCF	chr19:56425083-56425414	Gliobla	brain:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
44	CTCF	chr19:56425420-56425570	GM12867	blood:	n/a	n/a
45	CTCF	chr19:56425130-56425356	GM12878	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
46	CTCF	chr19:56425100-56425250	HCT-116	colon:	n/a	n/a
47	CTCF	chr19:56376627-56376650	GM13976	blood:	n/a	n/a
48	CTCF	chr19:56425160-56425310	Caco-2	colon:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
49	CTCF	chr19:56425127-56425357	A549	lung:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
50	CTCF	chr19:56425080-56425230	BE2_C	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56367316-56367366	ECC-1	luminal epithelium:	n/a
2	chr19:56418660-56418710	ovcar-3	ovarian:	n/a
3	chr19:56367830-56367880	NH-A	brain:	n/a
4	chr19:56418660-56418710	SK-N-SH_RA	brain:	n/a
5	chr19:56369416-56369466	HMEC	breast:	n/a
6	chr19:56369928-56369978	NT2-D1	testis:	n/a
7	chr19:56369928-56369978	HL-60	blood:	n/a
8	chr19:56369522-56369572	PrEC	prostate:	n/a
9	chr19:56369522-56369572	U87	brain:	n/a
10	chr19:56366191-56366241	A549	lung:	n/a
11	chr19:56366191-56366241	PrEC	prostate:	n/a
12	chr19:56369928-56369978	HCPEpiC	choroid plexus:	n/a
13	chr19:56369416-56369466	GM06990	blood:	n/a
14	chr19:56369416-56369466	NHBE	bronchial:	n/a
15	chr19:56369602-56369652	AG09319	gingival:	n/a
16	chr19:56367316-56367366	AG10803	skin:	n/a
17	chr19:56369522-56369572	HUVEC	blood vessel:	n/a
18	chr19:56367316-56367366	HAEpiC	amniotic membrane:	n/a
19	chr19:56366191-56366241	HepG2	liver:	n/a
20	chr19:56369928-56369978	HEEpiC	esophagus:	n/a
21	chr19:56369416-56369466	HEEpiC	esophagus:	n/a
22	chr19:56367830-56367880	HCF	heart:	n/a
23	chr19:56367830-56367880	SK-N-SH	brain:	n/a
24	chr19:56369602-56369652	CMK	blood:	n/a
25	chr19:56369522-56369572	RPTEC	kidney:	n/a
26	chr19:56418660-56418710	HepG2	liver:	n/a
27	chr19:56418660-56418710	HCT-116	colon:	n/a
28	chr19:56366191-56366241	MCF10A-Er-Src	breast:	n/a
29	chr19:56369602-56369652	AG04449	skin:	fetal
30	chr19:56369416-56369466	HCT-116	colon:	n/a
31	chr19:56367316-56367366	T-47D	breast:	n/a
32	chr19:56369928-56369978	Hela-S3	cervix:	n/a
33	chr19:56393163-56393213	AoSMC	blood vessel:	n/a
34	chr19:56369928-56369978	HCT-116	colon:	n/a
35	chr19:56369416-56369466	H1-hESC	embryonic stem cell:	embryo
36	chr19:56418660-56418710	AoSMC	blood vessel:	n/a
37	chr19:56418660-56418710	GM12892	blood:	n/a
38	chr19:56367316-56367366	Jurkat	blood:	n/a
39	chr19:56369416-56369466	HNPCEpiC	eye:	n/a
40	chr19:56369602-56369652	NHBE	bronchial:	n/a
41	chr19:56369416-56369466	Caco-2	colon:	n/a
42	chr19:56418660-56418710	MCF10A-Er-Src	breast:	n/a
43	chr19:56367830-56367880	SK-N-SH_RA	brain:	n/a
44	chr19:56369602-56369652	HRCEpiC	kidney:	n/a
45	chr19:56367316-56367366	Hepatocyte	liver:	n/a
46	chr19:56369602-56369652	ovcar-3	ovarian:	n/a
47	chr19:56367830-56367880	GM06990	blood:	n/a
48	chr19:56418660-56418710	ProgFib	skin:	n/a
49	chr19:56369928-56369978	GM12892	blood:	n/a
50	chr19:56366191-56366241	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56373661..56375169-chr19:56376696..56378685,2	K562	blood:
2	chr19:56430402..56432379-chr19:56447676..56449907,2	K562	blood:
3	chr19:56373661..56375169-chr19:56376696..56378685,2	K562	blood:
4	chr19:56424869..56425718-chr19:56582163..56583125,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP4-1	chr19:56399226-56399347	XLOC_013162
2	lnc-NLRP4-1	chr19:56400283-56401109	XLOC_013162

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

Extended variants
information (count: 816 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:816 , 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	rs436488	chr19:56364290-56364291	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144720897	chr19:56364318-56364319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs148256051	chr19:56364319-56364320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190329102	chr19:56364324-56364325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs148721267	chr19:56364351-56364352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182014117	chr19:56364371-56364372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs532012617	chr19:56364424-56364425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551850934	chr19:56364513-56364514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs141737315	chr19:56364524-56364525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs372879459	chr19:56364526-56364527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs537493932	chr19:56364542-56364543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs548773000	chr19:56364553-56364554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12610772	chr19:56364583-56364584	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146286848	chr19:56364634-56364635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572717167	chr19:56364659-56364660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs442189	chr19:56364684-56364685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571145934	chr19:56364719-56364720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140836885	chr19:56364767-56364768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372486776	chr19:56364774-56364775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539837443	chr19:56364795-56364796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370480425	chr19:56364801-56364802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556256229	chr19:56364814-56364815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550057214	chr19:56364828-56364829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541920244	chr19:56364872-56364873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555434176	chr19:56364873-56364874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574340977	chr19:56364892-56364893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540019081	chr19:56364913-56364914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560029787	chr19:56364935-56364936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143974382	chr19:56364945-56364946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532276784	chr19:56364946-56364947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375380214	chr19:56364950-56364951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545783836	chr19:56364972-56364973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569968096	chr19:56364999-56365000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139414761	chr19:56365006-56365007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531326218	chr19:56365034-56365035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543554879	chr19:56365055-56365056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548026885	chr19:56365086-56365087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568139258	chr19:56365087-56365088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372182478	chr19:56365088-56365089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148938375	chr19:56365098-56365099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374285133	chr19:56365099-56365100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371147119	chr19:56365101-56365102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113515986	chr19:56365121-56365122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374607998	chr19:56365122-56365123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532484414	chr19:56365128-56365129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111312911	chr19:56365133-56365134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111321439	chr19:56365157-56365158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112024021	chr19:56365163-56365164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527920859	chr19:56365166-56365167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143985127	chr19:56365176-56365177	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56363400-56364600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr19:56364600-56372200	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:56365200-56365400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:56366400-56366800	Enhancers	GM12878-XiMat	blood
5	chr19:56366800-56367000	Flanking Active TSS	GM12878-XiMat	blood
6	chr19:56367000-56367200	Enhancers	GM12878-XiMat	blood
7	chr19:56367200-56367400	Flanking Active TSS	GM12878-XiMat	blood
8	chr19:56367400-56368200	Enhancers	GM12878-XiMat	blood
9	chr19:56368200-56368800	Weak transcription	GM12878-XiMat	blood
10	chr19:56368800-56369000	Active TSS	GM12878-XiMat	blood
11	chr19:56369000-56369200	Flanking Active TSS	GM12878-XiMat	blood
12	chr19:56369200-56369400	Enhancers	GM12878-XiMat	blood
13	chr19:56369400-56370200	ZNF genes & repeats	GM12878-XiMat	blood
14	chr19:56382600-56384000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr19:56412400-56413200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:56419000-56419400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:56421400-56421600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr19:56423600-56424600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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