Variant report

Variant	nsv1067116
Chromosome Location	chr19:56418215-56450532
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	CEBPB	chr19:56448024-56448130	K562	blood:	n/a	n/a
2	CEBPB	chr19:56448047-56448229	IMR90	lung:	n/a	n/a
3	CEBPB	chr19:56448063-56448170	A549	lung:	n/a	n/a
4	CEBPB	chr19:56448058-56448093	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr19:56425180-56425330	MCF-7	breast:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
6	CTCF	chr19:56425080-56425230	BE2_C	brain:	n/a	n/a
7	CTCF	chr19:56425020-56425170	A549	lung:	n/a	chr19:56425065-56425073
8	CTCF	chr19:56425180-56425330	A549	lung:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
9	CTCF	chr19:56424360-56424510	HEK293	kidney:	n/a	n/a
10	CTCF	chr19:56425200-56425330	GM19238	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
11	CTCF	chr19:56425077-56425400	K562	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
12	CTCF	chr19:56425420-56425570	GM12867	blood:	n/a	n/a
13	CTCF	chr19:56425200-56425350	HEK293	kidney:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
14	CTCF	chr19:56425240-56425390	GM12870	blood:	n/a	chr19:56425242-56425255
15	CTCF	chr19:56425122-56425378	MCF-7	breast:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
16	CTCF	chr19:56425071-56425360	K562	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
17	CTCF	chr19:56425220-56425370	GM12874	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
18	CTCF	chr19:56425127-56425357	A549	lung:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
19	CTCF	chr19:56425260-56425410	GM12872	blood:	n/a	n/a
20	CTCF	chr19:56425129-56425360	Hela-S3	cervix:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
21	CTCF	chr19:56425083-56425414	Gliobla	brain:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
22	CTCF	chr19:56425200-56425350	GM12870	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
23	CTCF	chr19:56425091-56425427	HepG2	liver:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
24	CTCF	chr19:56425088-56425391	GM12878	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
25	CTCF	chr19:56425205-56425316	GM13977	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
26	CTCF	chr19:56425160-56425310	NHEK	skin:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
27	CTCF	chr19:56425145-56425365	GM12892	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
28	CTCF	chr19:56425140-56425290	GM12875	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
29	CTCF	chr19:56425285-56425295	GM20000	blood:	n/a	n/a
30	CTCF	chr19:56425143-56425337	A549	lung:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
31	CTCF	chr19:56425188-56425313	Fibrobl	skin:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
32	CTCF	chr19:56425120-56425373	MCF-7	breast:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
33	CTCF	chr19:56425180-56425330	RPTEC	kidney:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
34	CTCF	chr19:56425140-56425290	SAEC	small airway:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
35	CTCF	chr19:56425160-56425310	HFF-Myc	foreskin:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
36	CTCF	chr19:56442060-56442210	GM06990	blood:	n/a	n/a
37	CTCF	chr19:56425140-56425290	NB4	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
38	CTCF	chr19:56425080-56425230	GM12872	blood:	n/a	n/a
39	CTCF	chr19:56427280-56427430	HepG2	liver:	n/a	n/a
40	CTCF	chr19:56425146-56425355	SK-N-SH_RA	brain:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
41	CTCF	chr19:56425104-56425414	K562	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
42	CTCF	chr19:56425180-56425330	K562	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
43	CTCF	chr19:56425060-56425210	GM12870	blood:	n/a	chr19:56425065-56425073
44	CTCF	chr19:56425192-56425289	GM19239	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
45	CTCF	chr19:56425158-56425328	H1-hESC	embryonic stem cell:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
46	CTCF	chr19:56425120-56425270	GM12871	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
47	CTCF	chr19:56425160-56425310	K562	blood:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
48	CTCF	chr19:56425124-56425365	MCF-7	breast:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
49	CTCF	chr19:56425180-56425330	HEK293	kidney:	n/a	chr19:56425239-56425257 chr19:56425242-56425255
50	CTCF	chr19:56425176-56425314	Kidney_OC	kidney:	n/a	chr19:56425239-56425257 chr19:56425242-56425255

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56444551-56444601	GM12892	blood:	n/a
2	chr19:56444163-56444213	PrEC	prostate:	n/a
3	chr19:56418660-56418710	CMK	blood:	n/a
4	chr19:56444163-56444213	AG04449	skin:	fetal
5	chr19:56418660-56418710	GM19239	blood:	n/a
6	chr19:56443824-56443874	HMEC	breast:	n/a
7	chr19:56443419-56443469	HCT-116	colon:	n/a
8	chr19:56418660-56418710	PANC-1	pancreas:	n/a
9	chr19:56444163-56444213	HCM	heart:	n/a
10	chr19:56443824-56443874	Caco-2	colon:	n/a
11	chr19:56444163-56444213	MCF-7	breast:	n/a
12	chr19:56444551-56444601	HNPCEpiC	eye:	n/a
13	chr19:56444163-56444213	HepG2	liver:	n/a
14	chr19:56444551-56444601	SK-N-SH	brain:	n/a
15	chr19:56418660-56418710	AG04449	skin:	fetal
16	chr19:56443824-56443874	BJ	skin:	n/a
17	chr19:56418660-56418710	Hepatocyte	liver:	n/a
18	chr19:56443419-56443469	HNPCEpiC	eye:	n/a
19	chr19:56443419-56443469	Hela-S3	cervix:	n/a
20	chr19:56444551-56444601	HAEpiC	amniotic membrane:	n/a
21	chr19:56443419-56443469	HEK293	kidney:	embryo
22	chr19:56444551-56444601	Hepatocyte	liver:	n/a
23	chr19:56444163-56444213	NT2-D1	testis:	n/a
24	chr19:56443824-56443874	AG09319	gingival:	n/a
25	chr19:56443824-56443874	SKMC	muscle:	n/a
26	chr19:56444551-56444601	HPAEpiC	pulmonary alveolar:	n/a
27	chr19:56418660-56418710	K562	blood:	n/a
28	chr19:56443419-56443469	PFSK-1	brain:	n/a
29	chr19:56444551-56444601	AG04450	lung:	fetal
30	chr19:56444163-56444213	A549	lung:	n/a
31	chr19:56443824-56443874	A549	lung:	n/a
32	chr19:56443824-56443874	MCF-7	breast:	n/a
33	chr19:56418660-56418710	HRCEpiC	kidney:	n/a
34	chr19:56444163-56444213	H1-hESC	embryonic stem cell:	embryo
35	chr19:56443824-56443874	IMR90	lung:	fetal
36	chr19:56443824-56443874	CMK	blood:	n/a
37	chr19:56418660-56418710	Hela-S3	cervix:	n/a
38	chr19:56418660-56418710	HCF	heart:	n/a
39	chr19:56444163-56444213	Caco-2	colon:	n/a
40	chr19:56443419-56443469	MCF10A-Er-Src	breast:	n/a
41	chr19:56443419-56443469	HL-60	blood:	n/a
42	chr19:56443824-56443874	HAEpiC	amniotic membrane:	n/a
43	chr19:56443419-56443469	K562	blood:	n/a
44	chr19:56444163-56444213	ECC-1	luminal epithelium:	n/a
45	chr19:56443419-56443469	SK-N-SH	brain:	n/a
46	chr19:56444163-56444213	HMEC	breast:	n/a
47	chr19:56418660-56418710	BE2_C	brain:	n/a
48	chr19:56444163-56444213	Hepatocyte	liver:	n/a
49	chr19:56443824-56443874	ProgFib	skin:	n/a
50	chr19:56444163-56444213	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56439351..56441429-chr19:56446067..56448328,2	MCF-7	breast:
2	chr19:56439351..56441429-chr19:56446067..56448328,2	MCF-7	breast:
3	chr19:56430402..56432379-chr19:56447676..56449907,2	K562	blood:
4	chr19:56430402..56432379-chr19:56447676..56449907,2	K562	blood:
5	chr19:56424869..56425718-chr19:56582163..56583125,2	MCF-7	breast:
6	chr19:56437345..56439386-chr19:56452694..56454259,2	K562	blood:

Variant related genes	Relation type
NLRP13	TF binding region
NLRP13	CpG island

Extended variants
information (count: 188 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs191847309	chr19:56419025-56419026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs76534576	chr19:56419067-56419068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs199615417	chr19:56419091-56419092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184162496	chr19:56419098-56419099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs369934099	chr19:56419111-56419112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369309840	chr19:56419113-56419114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373386443	chr19:56419183-56419184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs575226350	chr19:56419208-56419209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537430301	chr19:56419214-56419215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs200519393	chr19:56419221-56419222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554693402	chr19:56419241-56419242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs17711239	chr19:56419263-56419264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs144869779	chr19:56419292-56419293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185249462	chr19:56419302-56419303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201391091	chr19:56419313-56419314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375200788	chr19:56419317-56419318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs369454908	chr19:56419319-56419320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs373368932	chr19:56419321-56419322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs16986783	chr19:56419325-56419326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112995749	chr19:56419338-56419339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374668119	chr19:56419341-56419342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201441361	chr19:56419348-56419349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370721496	chr19:56419353-56419354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190004815	chr19:56419382-56419383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs78360556	chr19:56419391-56419392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548281122	chr19:56419400-56419401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs570318225	chr19:56421407-56421408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186637851	chr19:56421426-56421427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190374729	chr19:56421472-56421473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569724639	chr19:56421546-56421547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536103075	chr19:56421574-56421575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549552055	chr19:56421576-56421577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs566385323	chr19:56421596-56421597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs377419386	chr19:56423606-56423607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200104443	chr19:56423626-56423627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201716484	chr19:56423631-56423632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs138181268	chr19:56423637-56423638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs61742950	chr19:56423645-56423646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs546606789	chr19:56423648-56423649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201102411	chr19:56423651-56423652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs199475875	chr19:56423653-56423654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201000741	chr19:56423658-56423659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs304001	chr19:56423668-56423669	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150065454	chr19:56423674-56423675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs61741218	chr19:56423690-56423691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs304000	chr19:56423692-56423693	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs303999	chr19:56423728-56423729	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146782806	chr19:56423763-56423764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs377694493	chr19:56423768-56423769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs140626353	chr19:56423801-56423802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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	chr19:56419000-56419400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:56421400-56421600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
3	chr19:56423600-56424600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:56442400-56443000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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