Variant report

Variant	nsv946390
Chromosome Location	chr1:152050317-152055106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:152052106-152052181	GM20000	blood:	n/a	n/a
2	CTCF	chr1:152051134-152051166	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr1:152052107-152052168	GM10266	blood:	n/a	n/a
4	CTCF	chr1:152052536-152052605	Lung_OC	lung:	n/a	n/a
5	CTCF	chr1:152052086-152052190	GM13977	blood:	n/a	n/a
6	HEY1	chr1:152050360-152050548	K562	blood:	n/a	n/a
7	HEY1	chr1:152050353-152050532	HepG2	liver:	n/a	n/a
8	MYC	chr1:152051223-152051278	H1-hESC	embryonic stem cell:	n/a	n/a
9	PAX5	chr1:152052265-152052710	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:152050381-152050513	A549	lung:	n/a	n/a
11	POLR2A	chr1:152050335-152050551	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:152050370-152050543	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:152050405-152050484	A549	lung:	n/a	n/a
14	POLR2A	chr1:152052354-152052755	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:152050411-152050481	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:152050380-152050505	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:152050385-152050534	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:152052244-152052893	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:152050411-152050481	A549	lung:	n/a	n/a
20	POLR2A	chr1:152052961-152053274	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:152050417-152050476	A549	lung:	n/a	n/a
22	POLR2A	chr1:152053761-152054370	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:152050670-152050674	K562	blood:	n/a	n/a
24	POU2F2	chr1:152053731-152054350	GM12878	blood:	n/a	n/a
25	STAT3	chr1:152051141-152052031	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr1:152050918-152052047	MCF10A-Er-Src	breast:	n/a	chr1:152050940-152050952
27	STAT3	chr1:152051383-152051953	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr1:152051068-152052040	MCF10A-Er-Src	breast:	n/a	n/a
29	TAF1	chr1:152054254-152054485	Hela-S3	cervix:	n/a	n/a
30	TCF3	chr1:152054202-152054439	GM12878	blood:	n/a	n/a
31	USF1	chr1:152052359-152052502	HepG2	liver:	n/a	n/a
32	ZNF263	chr1:152051259-152051708	HEK293-T-REx	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152051335-152051385	HCM	heart:	n/a
2	chr1:152053201-152053251	LNCaP	prostate:	n/a
3	chr1:152053201-152053251	HRCEpiC	kidney:	n/a
4	chr1:152051335-152051385	RPTEC	kidney:	n/a
5	chr1:152053201-152053251	HEK293	kidney:	embryo
6	chr1:152051335-152051385	HRPEpiC	eye:	n/a
7	chr1:152053201-152053251	ovcar-3	ovarian:	n/a
8	chr1:152051335-152051385	NHBE	bronchial:	n/a
9	chr1:152051335-152051385	K562	blood:	n/a
10	chr1:152051335-152051385	HCT-116	colon:	n/a
11	chr1:152053201-152053251	Jurkat	blood:	n/a
12	chr1:152053201-152053251	RPTEC	kidney:	n/a
13	chr1:152051335-152051385	ECC-1	luminal epithelium:	n/a
14	chr1:152051335-152051385	PANC-1	pancreas:	n/a
15	chr1:152051335-152051385	AG09309	skin:	n/a
16	chr1:152053201-152053251	AG04449	skin:	fetal
17	chr1:152053201-152053251	GM12878	blood:	n/a
18	chr1:152051335-152051385	AG10803	skin:	n/a
19	chr1:152053201-152053251	SAEC	small airway:	n/a
20	chr1:152051335-152051385	HRCEpiC	kidney:	n/a
21	chr1:152053201-152053251	HUVEC	blood vessel:	n/a
22	chr1:152051335-152051385	AG04449	skin:	fetal
23	chr1:152051335-152051385	HRE	kidney:	n/a
24	chr1:152051335-152051385	HEK293	kidney:	embryo
25	chr1:152051335-152051385	HL-60	blood:	n/a
26	chr1:152053201-152053251	NHDF-neo	bronchial:	n/a
27	chr1:152053201-152053251	Hela-S3	cervix:	n/a
28	chr1:152053201-152053251	HNPCEpiC	eye:	n/a
29	chr1:152053201-152053251	GM12892	blood:	n/a
30	chr1:152053201-152053251	NB4	blood:	n/a
31	chr1:152053201-152053251	PANC-1	pancreas:	n/a
32	chr1:152053201-152053251	SK-N-SH	brain:	n/a
33	chr1:152053201-152053251	K562	blood:	n/a
34	chr1:152053201-152053251	AG04450	lung:	fetal
35	chr1:152051335-152051385	A549	lung:	n/a
36	chr1:152053201-152053251	A549	lung:	n/a
37	chr1:152051335-152051385	AG04450	lung:	fetal
38	chr1:152053201-152053251	Caco-2	colon:	n/a
39	chr1:152051335-152051385	CMK	blood:	n/a
40	chr1:152053201-152053251	GM12891	blood:	n/a
41	chr1:152053201-152053251	PrEC	prostate:	n/a
42	chr1:152053201-152053251	HCF	heart:	n/a
43	chr1:152051335-152051385	Jurkat	blood:	n/a
44	chr1:152053201-152053251	NHBE	bronchial:	n/a
45	chr1:152053201-152053251	GM19239	blood:	n/a
46	chr1:152051335-152051385	Hepatocyte	liver:	n/a
47	chr1:152053201-152053251	HAEpiC	amniotic membrane:	n/a
48	chr1:152051335-152051385	ProgFib	skin:	n/a
49	chr1:152053201-152053251	T-47D	breast:	n/a
50	chr1:152051335-152051385	NT2-D1	testis:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:152027543..152029097-chr1:152054881..152057118,2	MCF-7	breast:
2	chr1:152054917..152058416-chr1:152081485..152084438,3	MCF-7	breast:
3	chr1:152052910..152054727-chr1:152057211..152059979,2	MCF-7	breast:
4	chr1:152051547..152054137-chr3:189306364..189308121,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-14	chr1:152050428-152050687	NONHSAT006463

No data

Variant related genes	Relation type
SPTLC1P4	TF binding region
SPTLC1P4	CpG island

Extended variants
information (count: 185 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:185 , 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	rs539669955	chr1:152050385-152050386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs553214718	chr1:152050409-152050410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs183832652	chr1:152050420-152050421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548666744	chr1:152050433-152050434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs541808563	chr1:152050474-152050475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs149857521	chr1:152050569-152050570	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs555073976	chr1:152050624-152050625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs575260976	chr1:152050636-152050637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs572013479	chr1:152050671-152050672	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs543921528	chr1:152050678-152050679	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs533665334	chr1:152051416-152051417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs375733421	chr1:152051440-152051441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573335231	chr1:152051441-152051442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188086311	chr1:152051451-152051452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556083878	chr1:152051452-152051453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs576052254	chr1:152051471-152051472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191279999	chr1:152051474-152051475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs568472374	chr1:152051492-152051493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182679799	chr1:152051510-152051511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560651032	chr1:152051511-152051512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577509635	chr1:152051532-152051533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533433312	chr1:152051535-152051536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540395227	chr1:152051543-152051544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560663654	chr1:152051548-152051549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs116533286	chr1:152051550-152051551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs79522088	chr1:152051556-152051557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs77084718	chr1:152051557-152051558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187551057	chr1:152051616-152051617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568809074	chr1:152051617-152051618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs531510133	chr1:152051722-152051723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550926967	chr1:152051725-152051726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs192772644	chr1:152051763-152051764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533811712	chr1:152051775-152051776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553567872	chr1:152051810-152051811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs567393334	chr1:152051816-152051817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552617686	chr1:152051817-152051818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs535667302	chr1:152051821-152051822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs184697428	chr1:152051846-152051847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187793936	chr1:152051851-152051852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs564516913	chr1:152051878-152051879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377016170	chr1:152051896-152051897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs558158225	chr1:152051911-152051912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs577939888	chr1:152051915-152051916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540656499	chr1:152051916-152051917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370253804	chr1:152051924-152051925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs529436801	chr1:152051926-152051927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs531725653	chr1:152051927-152051928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191886255	chr1:152051981-152051982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs151040177	chr1:152051982-152051983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551239965	chr1:152051991-152051992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152051400-152052000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:152052000-152059000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:152053400-152053800	Enhancers	Placenta	Placenta

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