Variant report

Variant	nsv1007452
Chromosome Location	chr1:152552742-152592515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:152555244-152555264	K562	blood:	n/a	chr1:152555246-152555260
2	CEBPB	chr1:152569565-152569765	HepG2	liver:	n/a	n/a
3	CTCF	chr1:152558280-152558430	RPTEC	kidney:	n/a	n/a
4	CTCF	chr1:152558180-152558330	GM12873	blood:	n/a	n/a
5	CTCF	chr1:152558120-152558270	GM12872	blood:	n/a	n/a
6	CTCF	chr1:152558145-152558310	LNCaP	prostate:	n/a	n/a
7	CTCF	chr1:152558180-152558330	HCT-116	colon:	n/a	n/a
8	CTCF	chr1:152558171-152558329	GM10248	blood:	n/a	n/a
9	CTCF	chr1:152558140-152558290	GM12870	blood:	n/a	n/a
10	CTCF	chr1:152552800-152552950	NHEK	skin:	n/a	chr1:152552927-152552936 chr1:152552921-152552939
11	CTCF	chr1:152558250-152558293	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr1:152558064-152558405	GM12878	blood:	n/a	n/a
13	CTCF	chr1:152552840-152552990	HMEC	breast:	n/a	chr1:152552927-152552936 chr1:152552921-152552939
14	CTCF	chr1:152558120-152558270	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr1:152558219-152558261	GM13976	blood:	n/a	n/a
16	CTCF	chr1:152558060-152558210	RPTEC	kidney:	n/a	n/a
17	CTCF	chr1:152558138-152558312	Gliobla	brain:	n/a	n/a
18	CTCF	chr1:152552800-152552950	WERI-Rb-1	eye:	n/a	chr1:152552927-152552936 chr1:152552921-152552939
19	CTCF	chr1:152590866-152590922	GM10248	blood:	n/a	n/a
20	CTCF	chr1:152558060-152558210	BE2_C	brain:	n/a	n/a
21	CTCF	chr1:152558100-152558250	K562	blood:	n/a	n/a
22	CTCF	chr1:152558140-152558316	NHEK	skin:	n/a	n/a
23	CTCF	chr1:152557580-152557730	GM12872	blood:	n/a	n/a
24	CTCF	chr1:152558169-152558173	GM20000	blood:	n/a	n/a
25	CTCF	chr1:152558180-152558330	GM12868	blood:	n/a	n/a
26	CTCF	chr1:152558100-152558250	GM12864	blood:	n/a	n/a
27	CTCF	chr1:152558180-152558330	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr1:152558120-152558270	GM12871	blood:	n/a	n/a
29	CTCF	chr1:152558120-152558270	GM12878	blood:	n/a	n/a
30	CTCF	chr1:152558166-152558276	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr1:152558100-152558250	HMF	breast:	n/a	n/a
32	CTCF	chr1:152580040-152580190	GM12874	blood:	n/a	chr1:152580060-152580068
33	CTCF	chr1:152558120-152558270	GM12870	blood:	n/a	n/a
34	CTCF	chr1:152557760-152557910	GM12864	blood:	n/a	n/a
35	CTCF	chr1:152558100-152558250	HepG2	liver:	n/a	n/a
36	CTCF	chr1:152558140-152558290	HMEC	breast:	n/a	n/a
37	CTCF	chr1:152558180-152558330	HMF	breast:	n/a	n/a
38	CTCF	chr1:152558201-152558277	K562	blood:	n/a	n/a
39	CTCF	chr1:152558040-152558190	GM12869	blood:	n/a	n/a
40	CTCF	chr1:152558140-152558290	AG09319	gingival:	n/a	n/a
41	CTCF	chr1:152558160-152558310	NB4	blood:	n/a	n/a
42	CTCF	chr1:152558160-152558310	GM12874	blood:	n/a	n/a
43	CTCF	chr1:152557900-152558050	GM12873	blood:	n/a	n/a
44	CTCF	chr1:152558127-152558330	GM12878	blood:	n/a	n/a
45	CTCF	chr1:152558180-152558330	GM12866	blood:	n/a	n/a
46	CTCF	chr1:152591780-152591930	GM12866	blood:	n/a	n/a
47	CTCF	chr1:152558167-152558328	K562	blood:	n/a	n/a
48	CTCF	chr1:152558140-152558290	GM12872	blood:	n/a	n/a
49	CTCF	chr1:152558158-152558309	HepG2	liver:	n/a	n/a
50	CTCF	chr1:152558160-152558310	GM12865	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152553096-152553146	H1-hESC	embryonic stem cell:	embryo
2	chr1:152553244-152553294	GM06990	blood:	n/a
3	chr1:152553096-152553146	A549	lung:	n/a
4	chr1:152553096-152553146	AoSMC	blood vessel:	n/a
5	chr1:152553244-152553294	PANC-1	pancreas:	n/a
6	chr1:152553244-152553294	MCF10A-Er-Src	breast:	n/a
7	chr1:152553244-152553294	Jurkat	blood:	n/a
8	chr1:152553096-152553146	HRE	kidney:	n/a
9	chr1:152553096-152553146	AG04449	skin:	fetal
10	chr1:152553096-152553146	Hepatocyte	liver:	n/a
11	chr1:152553244-152553294	HRE	kidney:	n/a
12	chr1:152553244-152553294	HCPEpiC	choroid plexus:	n/a
13	chr1:152553096-152553146	GM12892	blood:	n/a
14	chr1:152553244-152553294	HEK293	kidney:	embryo
15	chr1:152553244-152553294	NB4	blood:	n/a
16	chr1:152553244-152553294	SK-N-SH	brain:	n/a
17	chr1:152553096-152553146	HepG2	liver:	n/a
18	chr1:152553096-152553146	HL-60	blood:	n/a
19	chr1:152553244-152553294	AG04450	lung:	fetal
20	chr1:152553096-152553146	NB4	blood:	n/a
21	chr1:152553096-152553146	NT2-D1	testis:	n/a
22	chr1:152553244-152553294	U87	brain:	n/a
23	chr1:152553096-152553146	HUVEC	blood vessel:	n/a
24	chr1:152553244-152553294	HL-60	blood:	n/a
25	chr1:152553096-152553146	ProgFib	skin:	n/a
26	chr1:152553244-152553294	ovcar-3	ovarian:	n/a
27	chr1:152553096-152553146	PANC-1	pancreas:	n/a
28	chr1:152553244-152553294	NT2-D1	testis:	n/a
29	chr1:152553096-152553146	PrEC	prostate:	n/a
30	chr1:152553096-152553146	PFSK-1	brain:	n/a
31	chr1:152553244-152553294	AG04449	skin:	fetal
32	chr1:152553096-152553146	MCF-7	breast:	n/a
33	chr1:152553096-152553146	LNCaP	prostate:	n/a
34	chr1:152553096-152553146	AG09319	gingival:	n/a
35	chr1:152553244-152553294	GM12878	blood:	n/a
36	chr1:152553096-152553146	BJ	skin:	n/a
37	chr1:152553244-152553294	SK-N-SH_RA	brain:	n/a
38	chr1:152553244-152553294	H1-hESC	embryonic stem cell:	embryo
39	chr1:152553096-152553146	HCPEpiC	choroid plexus:	n/a
40	chr1:152553096-152553146	CMK	blood:	n/a
41	chr1:152553244-152553294	Hepatocyte	liver:	n/a
42	chr1:152553096-152553146	HCT-116	colon:	n/a
43	chr1:152553096-152553146	GM06990	blood:	n/a
44	chr1:152553244-152553294	HIPEpiC	eye:	n/a
45	chr1:152553244-152553294	ECC-1	luminal epithelium:	n/a
46	chr1:152553096-152553146	MCF10A-Er-Src	breast:	n/a
47	chr1:152553096-152553146	HAEpiC	amniotic membrane:	n/a
48	chr1:152553244-152553294	HCM	heart:	n/a
49	chr1:152553244-152553294	IMR90	lung:	fetal
50	chr1:152553096-152553146	NH-A	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152550535..152553138-chr1:152591146..152593497,2	K562	blood:
2	chr1:152580545..152582523-chr1:152584809..152586590,2	K562	blood:

No data

Variant related genes	Relation type
LCE3B	TF binding region
LCE3D	TF binding region
LCE3C	TF binding region
LCE3B	CpG island
LCE3D	CpG island
LCE3C	CpG island
ENSG00000187238	chromatin interactions
ENSG00000163202	chromatin interactions

Extended variants
information (count: 247 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113875553	chr1:152552766-152552767	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530751511	chr1:152552778-152552779	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531042475	chr1:152552817-152552818	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544701972	chr1:152552821-152552822	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564300808	chr1:152552837-152552838	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533156578	chr1:152552844-152552845	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373917099	chr1:152552847-152552848	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546616387	chr1:152552906-152552907	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566766049	chr1:152552915-152552916	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139416584	chr1:152552939-152552940	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548981772	chr1:152552985-152552986	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568723302	chr1:152552986-152552987	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113237577	chr1:152552999-152553000	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs73005820	chr1:152553045-152553046	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570752953	chr1:152553053-152553054	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs187363466	chr1:152553075-152553076	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539656618	chr1:152553088-152553089	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs192074018	chr1:152553096-152553097	ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs552591888	chr1:152553130-152553131	ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs573503495	chr1:152553227-152553228	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs73005823	chr1:152553244-152553245	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs555765793	chr1:152553271-152553272	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs575687790	chr1:152553344-152553345	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs11810844	chr1:152553365-152553366	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs55886141	chr1:152553480-152553481	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533423668	chr1:152553534-152553535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540423667	chr1:152553591-152553592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76804191	chr1:152553624-152553625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113674478	chr1:152553656-152553657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548988275	chr1:152553666-152553667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147906835	chr1:152553689-152553690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531201116	chr1:152553701-152553702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550922935	chr1:152553706-152553707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182958039	chr1:152553727-152553728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528287178	chr1:152553729-152553730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371178932	chr1:152553730-152553731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553547892	chr1:152553759-152553760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10788843	chr1:152553768-152553769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530785479	chr1:152553833-152553834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536175155	chr1:152553841-152553842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12084974	chr1:152553853-152553854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111863574	chr1:152553909-152553910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10749673	chr1:152553913-152553914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185988523	chr1:152553918-152553919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59450192	chr1:152553935-152553936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151025348	chr1:152553963-152553964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140413942	chr1:152554065-152554066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34566986	chr1:152554074-152554075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560326971	chr1:152554078-152554079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11205036	chr1:152554081-152554082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152550800-152555200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:152551600-152552800	Weak transcription	HSMM	muscle
3	chr1:152552400-152553200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:152552400-152553400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:152552600-152553200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:152552600-152553200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:152552600-152553400	Enhancers	HMEC	breast
8	chr1:152552800-152553200	Enhancers	HSMM	muscle
9	chr1:152552800-152553400	Enhancers	NHEK	skin
10	chr1:152553400-152555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:152553400-152555000	Weak transcription	HMEC	breast
12	chr1:152553400-152555200	Weak transcription	NHEK	skin
13	chr1:152555000-152555600	Flanking Active TSS	A549	lung
14	chr1:152555000-152555600	Enhancers	HMEC	breast
15	chr1:152555000-152555800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:152555200-152555600	Enhancers	NHEK	skin
17	chr1:152555400-152555600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:152555400-152555800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:152569600-152570200	Enhancers	Liver	Liver
20	chr1:152591000-152592600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:152591000-152592600	ZNF genes & repeats	Adipose Nuclei	Adipose

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