Variant report

Variant	nsv580352
Chromosome Location	chr19:56446304-56466227
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	chr19:56457320-56457470	A549	lung:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
6	CTCF	chr19:56455920-56456070	GM12878	blood:	n/a	n/a
7	CTCF	chr19:56457300-56457450	NHEK	skin:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
8	CTCF	chr19:56457320-56457470	GM12869	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
9	CTCF	chr19:56457300-56457450	Hela-S3	cervix:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
10	CTCF	chr19:56457380-56457530	HRE	kidney:	n/a	n/a
11	CTCF	chr19:56455760-56455910	MCF-7	breast:	n/a	n/a
12	CTCF	chr19:56454280-56454430	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr19:56454404-56454508	MCF-7	breast:	n/a	n/a
14	CTCF	chr19:56457380-56457530	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr19:56455860-56456010	HCT-116	colon:	n/a	n/a
16	CTCF	chr19:56457229-56457499	K562	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
17	CTCF	chr19:56457196-56457533	K562	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
18	CTCF	chr19:56457188-56457445	H1-hESC	embryonic stem cell:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
19	CTCF	chr19:56454340-56454490	K562	blood:	n/a	n/a
20	CTCF	chr19:56457280-56457430	GM12874	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
21	CTCF	chr19:56454440-56454590	GM06990	blood:	n/a	n/a
22	CTCF	chr19:56457340-56457490	GM12871	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
23	CTCF	chr19:56457340-56457490	BE2_C	brain:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
24	CTCF	chr19:56457280-56457430	HFF-Myc	foreskin:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
25	CTCF	chr19:56457300-56457450	HRPEpiC	eye:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
26	CTCF	chr19:56451320-56451470	MCF-7	breast:	n/a	n/a
27	CTCF	chr19:56457260-56457410	MCF-7	breast:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
28	CTCF	chr19:56457240-56457390	HRE	kidney:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
29	CTCF	chr19:56457273-56457453	Medullo	brain:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
30	CTCF	chr19:56454400-56454550	MCF-7	breast:	n/a	n/a
31	CTCF	chr19:56457320-56457470	HPAF	blood vessel:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
32	CTCF	chr19:56457240-56457390	GM12864	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
33	CTCF	chr19:56457300-56457450	BE2_C	brain:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
34	CTCF	chr19:56457304-56457391	Fibrobl	skin:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
35	CTCF	chr19:56457220-56457370	GM12869	blood:	n/a	n/a
36	CTCF	chr19:56457340-56457400	NHEK	skin:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
37	CTCF	chr19:56454410-56454509	Gliobla	brain:	n/a	n/a
38	CTCF	chr19:56457340-56457490	GM12865	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
39	CTCF	chr19:56455919-56456072	Gliobla	brain:	n/a	n/a
40	CTCF	chr19:56457260-56457410	GM12865	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
41	CTCF	chr19:56457300-56457450	K562	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
42	CTCF	chr19:56457245-56457450	HepG2	liver:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
43	CTCF	chr19:56457323-56457418	A549	lung:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
44	CTCF	chr19:56455940-56456090	Caco-2	colon:	n/a	n/a
45	CTCF	chr19:56457200-56457350	GM12868	blood:	n/a	n/a
46	CTCF	chr19:56457312-56457424	GM12892	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
47	CTCF	chr19:56454431-56454461	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr19:56457380-56457530	MCF-7	breast:	n/a	n/a
49	CTCF	chr19:56454320-56454470	A549	lung:	n/a	n/a
50	CTCF	chr19:56454320-56454470	HCT-116	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56459108-56459158	SKMC	muscle:	n/a
2	chr19:56458926-56458976	HCF	heart:	n/a
3	chr19:56459103-56459153	AG04449	skin:	fetal
4	chr19:56458926-56458976	ECC-1	luminal epithelium:	n/a
5	chr19:56459108-56459158	HNPCEpiC	eye:	n/a
6	chr19:56459108-56459158	HEEpiC	esophagus:	n/a
7	chr19:56459137-56459187	HAEpiC	amniotic membrane:	n/a
8	chr19:56459234-56459284	HRCEpiC	kidney:	n/a
9	chr19:56458926-56458976	SAEC	small airway:	n/a
10	chr19:56459108-56459158	HEK293	kidney:	embryo
11	chr19:56458926-56458976	LNCaP	prostate:	n/a
12	chr19:56459103-56459153	HRCEpiC	kidney:	n/a
13	chr19:56459103-56459153	Caco-2	colon:	n/a
14	chr19:56459234-56459284	HIPEpiC	eye:	n/a
15	chr19:56459137-56459187	PrEC	prostate:	n/a
16	chr19:56459234-56459284	LNCaP	prostate:	n/a
17	chr19:56459108-56459158	MCF-7	breast:	n/a
18	chr19:56459137-56459187	H1-hESC	embryonic stem cell:	embryo
19	chr19:56458926-56458976	NT2-D1	testis:	n/a
20	chr19:56458926-56458976	U87	brain:	n/a
21	chr19:56459234-56459284	BE2_C	brain:	n/a
22	chr19:56459108-56459158	LNCaP	prostate:	n/a
23	chr19:56459137-56459187	HEEpiC	esophagus:	n/a
24	chr19:56458926-56458976	HRPEpiC	eye:	n/a
25	chr19:56458926-56458976	CMK	blood:	n/a
26	chr19:56459103-56459153	HRPEpiC	eye:	n/a
27	chr19:56458926-56458976	AG10803	skin:	n/a
28	chr19:56459137-56459187	ovcar-3	ovarian:	n/a
29	chr19:56459103-56459153	AG10803	skin:	n/a
30	chr19:56459103-56459153	K562	blood:	n/a
31	chr19:56459103-56459153	ovcar-3	ovarian:	n/a
32	chr19:56459137-56459187	GM12878	blood:	n/a
33	chr19:56459108-56459158	IMR90	lung:	fetal
34	chr19:56458926-56458976	BJ	skin:	n/a
35	chr19:56459103-56459153	Jurkat	blood:	n/a
36	chr19:56459234-56459284	Hepatocyte	liver:	n/a
37	chr19:56459103-56459153	AG04450	lung:	fetal
38	chr19:56459108-56459158	AG09309	skin:	n/a
39	chr19:56459108-56459158	AoSMC	blood vessel:	n/a
40	chr19:56458926-56458976	K562	blood:	n/a
41	chr19:56459137-56459187	Jurkat	blood:	n/a
42	chr19:56459108-56459158	A549	lung:	n/a
43	chr19:56459137-56459187	AG09309	skin:	n/a
44	chr19:56459234-56459284	U87	brain:	n/a
45	chr19:56459137-56459187	SK-N-SH	brain:	n/a
46	chr19:56458926-56458976	Hela-S3	cervix:	n/a
47	chr19:56459108-56459158	HCM	heart:	n/a
48	chr19:56459108-56459158	PFSK-1	brain:	n/a
49	chr19:56459103-56459153	HCF	heart:	n/a
50	chr19:56459103-56459153	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56464653..56466307-chr19:56469683..56471185,2	K562	blood:
2	chr19:56430402..56432379-chr19:56447676..56449907,2	K562	blood:
3	chr19:56454965..56456732-chr19:56458857..56460406,2	MCF-7	breast:
4	chr19:56437345..56439386-chr19:56452694..56454259,2	K562	blood:
5	chr19:56464807..56467455-chr19:56469685..56471686,2	K562	blood:
6	chr19:56439351..56441429-chr19:56446067..56448328,2	MCF-7	breast:

Variant related genes	Relation type
NLRP13	TF binding region
NLRP8	TF binding region
NLRP13	CpG island
NLRP8	CpG island
ENSG00000179709	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs144427610	chr19:56448058-56448059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs559268388	chr19:56448086-56448087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371053047	chr19:56448087-56448088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574367071	chr19:56448088-56448089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528085843	chr19:56448096-56448097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540002496	chr19:56448117-56448118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs112477863	chr19:56448126-56448127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs577526463	chr19:56448127-56448128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs546388831	chr19:56448128-56448129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs375653623	chr19:56448158-56448159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183510084	chr19:56454310-56454311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs80016603	chr19:56454340-56454341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs562768477	chr19:56454404-56454405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs809275	chr19:56454485-56454486	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113578370	chr19:56454508-56454509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs534949502	chr19:56454525-56454526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs805165	chr19:56454562-56454563	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs577911227	chr19:56454566-56454567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs536704731	chr19:56454971-56454972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78730158	chr19:56455004-56455005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367601083	chr19:56455018-56455019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572268256	chr19:56455019-56455020	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541379260	chr19:56455035-56455036	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564356129	chr19:56455043-56455044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570242623	chr19:56455064-56455065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117198520	chr19:56455083-56455084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191468489	chr19:56455097-56455098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543072078	chr19:56455162-56455163	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563260073	chr19:56455199-56455200	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528987046	chr19:56455206-56455207	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs112463161	chr19:56455216-56455217	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542265092	chr19:56455236-56455237	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141624430	chr19:56455262-56455263	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs184363875	chr19:56455292-56455293	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs146223886	chr19:56455325-56455326	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554244912	chr19:56455359-56455360	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369313821	chr19:56455429-56455430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11671038	chr19:56455447-56455448	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs550711618	chr19:56455513-56455514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566039561	chr19:56455553-56455554	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567605286	chr19:56455570-56455571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74575528	chr19:56455572-56455573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79058065	chr19:56455587-56455588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201100128	chr19:56455600-56455601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201278957	chr19:56455605-56455606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375547528	chr19:56455606-56455607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs439142	chr19:56455618-56455619	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs79081942	chr19:56455619-56455620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577060838	chr19:56455626-56455627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577874551	chr19:56455630-56455631	Inactive region	Chromatin interactive region	1 gene(s)	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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56463600-56464400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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