Variant report

Variant	nsv1062408
Chromosome Location	chr19:56441269-56489029
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	CBX3	chr19:56485399-56485613	K562	blood:	n/a	n/a
2	CEBPB	chr19:56448047-56448229	IMR90	lung:	n/a	n/a
3	CEBPB	chr19:56469909-56469933	HepG2	liver:	n/a	n/a
4	CEBPB	chr19:56448063-56448170	A549	lung:	n/a	n/a
5	CEBPB	chr19:56469812-56470113	MCF-7	breast:	n/a	n/a
6	CEBPB	chr19:56480616-56480742	HepG2	liver:	n/a	chr19:56480657-56480668
7	CEBPB	chr19:56448058-56448093	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr19:56448024-56448130	K562	blood:	n/a	n/a
9	CTCF	chr19:56457188-56457445	H1-hESC	embryonic stem cell:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
10	CTCF	chr19:56457280-56457430	GM12870	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
11	CTCF	chr19:56457260-56457410	GM12870	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
12	CTCF	chr19:56478036-56478230	MCF-7	breast:	n/a	n/a
13	CTCF	chr19:56457187-56457463	HepG2	liver:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
14	CTCF	chr19:56478100-56478250	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr19:56457258-56457445	HepG2	liver:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
16	CTCF	chr19:56455900-56456050	GM12864	blood:	n/a	n/a
17	CTCF	chr19:56454421-56454492	HepG2	liver:	n/a	n/a
18	CTCF	chr19:56457260-56457410	GM12865	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
19	CTCF	chr19:56457280-56457430	GM12878	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
20	CTCF	chr19:56454360-56454510	HEK293	kidney:	n/a	n/a
21	CTCF	chr19:56457276-56457465	H1-hESC	embryonic stem cell:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
22	CTCF	chr19:56457280-56457430	HCT-116	colon:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
23	CTCF	chr19:56457277-56457464	MCF-7	breast:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
24	CTCF	chr19:56457300-56457450	GM12864	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
25	CTCF	chr19:56457312-56457424	GM12892	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
26	CTCF	chr19:56478121-56478151	Gliobla	brain:	n/a	n/a
27	CTCF	chr19:56455920-56456070	GM12878	blood:	n/a	n/a
28	CTCF	chr19:56478020-56478170	HCT-116	colon:	n/a	n/a
29	CTCF	chr19:56457200-56457350	GM12868	blood:	n/a	n/a
30	CTCF	chr19:56454280-56454430	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr19:56457311-56457445	GM19238	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
32	CTCF	chr19:56455957-56456045	HepG2	liver:	n/a	n/a
33	CTCF	chr19:56457300-56457450	GM12875	blood:	n/a	chr19:56457359-56457375 chr19:56457358-56457376 chr19:56457360-56457373
34	CTCF	chr19:56457320-56457470	GM12871	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
35	CTCF	chr19:56457340-56457490	HBMEC	blood vessel:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
36	CTCF	chr19:56457220-56457370	GM12869	blood:	n/a	n/a
37	CTCF	chr19:56455924-56456061	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr19:56454320-56454470	HCT-116	colon:	n/a	n/a
39	CTCF	chr19:56457280-56457430	GM12874	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
40	CTCF	chr19:56457300-56457450	HRPEpiC	eye:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
41	CTCF	chr19:56457181-56457483	K562	blood:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
42	CTCF	chr19:56457258-56457480	Gliobla	brain:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
43	CTCF	chr19:56457300-56457450	BE2_C	brain:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
44	CTCF	chr19:56457300-56457450	NHEK	skin:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
45	CTCF	chr19:56457300-56457450	SK-N-SH_RA	brain:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
46	CTCF	chr19:56457266-56457446	MCF-7	breast:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
47	CTCF	chr19:56455880-56456030	HepG2	liver:	n/a	n/a
48	CTCF	chr19:56457280-56457430	HEK293	kidney:	n/a	chr19:56457358-56457376 chr19:56457360-56457373 chr19:56457359-56457375
49	CTCF	chr19:56455963-56456058	K562	blood:	n/a	n/a
50	CTCF	chr19:56478080-56478230	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56444163-56444213	HRCEpiC	kidney:	n/a
2	chr19:56444163-56444213	HRCEpiC	kidney:	n/a
3	chr19:56443419-56443469	HRPEpiC	eye:	n/a
4	chr19:56459108-56459158	ECC-1	luminal epithelium:	n/a
5	chr19:56459103-56459153	HIPEpiC	eye:	n/a
6	chr19:56459108-56459158	HCT-116	colon:	n/a
7	chr19:56459234-56459284	HCT-116	colon:	n/a
8	chr19:56459103-56459153	PrEC	prostate:	n/a
9	chr19:56458926-56458976	AG04450	lung:	fetal
10	chr19:56443824-56443874	BE2_C	brain:	n/a
11	chr19:56459108-56459158	HL-60	blood:	n/a
12	chr19:56466500-56466550	GM12878	blood:	n/a
13	chr19:56444551-56444601	AG09309	skin:	n/a
14	chr19:56444551-56444601	Hepatocyte	liver:	n/a
15	chr19:56444551-56444601	SK-N-MC	brain:	n/a
16	chr19:56458926-56458976	SK-N-SH_RA	brain:	n/a
17	chr19:56466500-56466550	HUVEC	blood vessel:	n/a
18	chr19:56443419-56443469	SK-N-SH_RA	brain:	n/a
19	chr19:56459137-56459187	AG04449	skin:	fetal
20	chr19:56466500-56466550	BE2_C	brain:	n/a
21	chr19:56466500-56466550	MCF-7	breast:	n/a
22	chr19:56443419-56443469	Caco-2	colon:	n/a
23	chr19:56443824-56443874	AoSMC	blood vessel:	n/a
24	chr19:56443419-56443469	AG10803	skin:	n/a
25	chr19:56443419-56443469	SAEC	small airway:	n/a
26	chr19:56443824-56443874	AG09309	skin:	n/a
27	chr19:56444551-56444601	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:56444163-56444213	HAEpiC	amniotic membrane:	n/a
29	chr19:56458926-56458976	Hela-S3	cervix:	n/a
30	chr19:56443419-56443469	HIPEpiC	eye:	n/a
31	chr19:56459108-56459158	HEK293	kidney:	embryo
32	chr19:56459234-56459284	HRCEpiC	kidney:	n/a
33	chr19:56444163-56444213	HCPEpiC	choroid plexus:	n/a
34	chr19:56443824-56443874	NHBE	bronchial:	n/a
35	chr19:56458926-56458976	HMEC	breast:	n/a
36	chr19:56443824-56443874	HCF	heart:	n/a
37	chr19:56444551-56444601	GM06990	blood:	n/a
38	chr19:56459137-56459187	HIPEpiC	eye:	n/a
39	chr19:56443419-56443469	AG04449	skin:	fetal
40	chr19:56459103-56459153	ovcar-3	ovarian:	n/a
41	chr19:56458926-56458976	PANC-1	pancreas:	n/a
42	chr19:56459103-56459153	AoSMC	blood vessel:	n/a
43	chr19:56459234-56459284	HEEpiC	esophagus:	n/a
44	chr19:56458926-56458976	AG10803	skin:	n/a
45	chr19:56443419-56443469	GM12892	blood:	n/a
46	chr19:56443824-56443874	PrEC	prostate:	n/a
47	chr19:56444163-56444213	HRE	kidney:	n/a
48	chr19:56443824-56443874	MCF-7	breast:	n/a
49	chr19:56443419-56443469	SK-N-MC	brain:	n/a
50	chr19:56459108-56459158	IMR90	lung:	fetal

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

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

Extended variants
information (count: 364 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:364 , 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	rs533169692	chr19:56442424-56442425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs34899843	chr19:56442431-56442432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371895479	chr19:56442432-56442433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs408552	chr19:56442501-56442502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs371162906	chr19:56442536-56442537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs146950715	chr19:56442548-56442549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529392582	chr19:56442560-56442561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573879609	chr19:56442563-56442564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2116870	chr19:56442580-56442581	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs75573596	chr19:56442601-56442602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs75080466	chr19:56442621-56442622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545346763	chr19:56442632-56442633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565251316	chr19:56442646-56442647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs4991665	chr19:56442647-56442648	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2840020	chr19:56442657-56442658	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563511877	chr19:56442689-56442690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529093721	chr19:56442726-56442727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs570424460	chr19:56442729-56442730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs549346479	chr19:56442739-56442740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2903498	chr19:56442750-56442751	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528089180	chr19:56442753-56442754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2867139	chr19:56442770-56442771	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374344508	chr19:56442772-56442773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs4991666	chr19:56442801-56442802	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550251897	chr19:56442825-56442826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4991667	chr19:56442839-56442840	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4991668	chr19:56442848-56442849	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs4991669	chr19:56442875-56442876	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187828780	chr19:56442892-56442893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149428754	chr19:56442896-56442897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs558941358	chr19:56442901-56442902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112771554	chr19:56442924-56442925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376416139	chr19:56442931-56442932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs369209014	chr19:56442932-56442933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373593728	chr19:56442935-56442936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs555099852	chr19:56442944-56442945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs448835	chr19:56442967-56442968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200460151	chr19:56443860-56443861	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs145915426	chr19:56443864-56443865	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs67553377	chr19:56443865-56443866	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs55968463	chr19:56443866-56443867	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs11672530	chr19:56443867-56443868	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs185795887	chr19:56444170-56444171	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs570804019	chr19:56444178-56444179	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs513576	chr19:56444206-56444207	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs187541495	chr19:56444551-56444552	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs142916347	chr19:56444554-56444555	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs192341975	chr19:56444561-56444562	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs569776766	chr19:56444573-56444574	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs382113	chr19:56444588-56444589	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	mRNA abundance

Variant related diseases (count:68)

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
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	chr19:56442400-56443000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:56463600-56464400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr19:56468000-56468200	Bivalent Enhancer	HepG2	liver
4	chr19:56482000-56482400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:56485200-56486600	Enhancers	Brain Hippocampus Middle	brain
6	chr19:56486200-56487000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:56486400-56486800	Flanking Active TSS	Brain Anterior Caudate	brain

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