Variant report

Variant	nsv946392
Chromosome Location	chr1:152647083-152648442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:152647617-152647851	HepG2	liver:	n/a	chr1:152647675-152647686 chr1:152647676-152647687
2	POLR2A	chr1:152647853-152647877	MCF-7	breast:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152647793-152647843	AG04449	skin:	fetal
2	chr1:152647793-152647843	AG04449	skin:	fetal
3	chr1:152647216-152647266	BJ	skin:	n/a
4	chr1:152647793-152647843	HAEpiC	amniotic membrane:	n/a
5	chr1:152647216-152647266	HRPEpiC	eye:	n/a
6	chr1:152647793-152647843	T-47D	breast:	n/a
7	chr1:152647777-152647827	NHBE	bronchial:	n/a
8	chr1:152647793-152647843	RPTEC	kidney:	n/a
9	chr1:152647216-152647266	ProgFib	skin:	n/a
10	chr1:152647777-152647827	Jurkat	blood:	n/a
11	chr1:152647793-152647843	ProgFib	skin:	n/a
12	chr1:152647793-152647843	HEK293	kidney:	embryo
13	chr1:152647777-152647827	RPTEC	kidney:	n/a
14	chr1:152647777-152647827	T-47D	breast:	n/a
15	chr1:152647216-152647266	HEK293	kidney:	embryo
16	chr1:152647777-152647827	NT2-D1	testis:	n/a
17	chr1:152647777-152647827	H1-hESC	embryonic stem cell:	embryo
18	chr1:152647793-152647843	PANC-1	pancreas:	n/a
19	chr1:152647216-152647266	NT2-D1	testis:	n/a
20	chr1:152647777-152647827	ovcar-3	ovarian:	n/a
21	chr1:152647216-152647266	SAEC	small airway:	n/a
22	chr1:152647793-152647843	AG04450	lung:	fetal
23	chr1:152647777-152647827	SK-N-SH_RA	brain:	n/a
24	chr1:152647793-152647843	AoSMC	blood vessel:	n/a
25	chr1:152647793-152647843	SK-N-MC	brain:	n/a
26	chr1:152647216-152647266	PrEC	prostate:	n/a
27	chr1:152647777-152647827	AG09319	gingival:	n/a
28	chr1:152647777-152647827	HRPEpiC	eye:	n/a
29	chr1:152647777-152647827	AG04449	skin:	fetal
30	chr1:152647216-152647266	Hepatocyte	liver:	n/a
31	chr1:152647216-152647266	GM12892	blood:	n/a
32	chr1:152647777-152647827	Hepatocyte	liver:	n/a
33	chr1:152647216-152647266	MCF-7	breast:	n/a
34	chr1:152647777-152647827	AoSMC	blood vessel:	n/a
35	chr1:152647216-152647266	HUVEC	blood vessel:	n/a
36	chr1:152647216-152647266	NHDF-neo	bronchial:	n/a
37	chr1:152647216-152647266	Jurkat	blood:	n/a
38	chr1:152647793-152647843	LNCaP	prostate:	n/a
39	chr1:152647777-152647827	GM12878	blood:	n/a
40	chr1:152647216-152647266	HCPEpiC	choroid plexus:	n/a
41	chr1:152647216-152647266	PANC-1	pancreas:	n/a
42	chr1:152647793-152647843	NH-A	brain:	n/a
43	chr1:152647777-152647827	HUVEC	blood vessel:	n/a
44	chr1:152647793-152647843	BE2_C	brain:	n/a
45	chr1:152647793-152647843	BJ	skin:	n/a
46	chr1:152647793-152647843	CMK	blood:	n/a
47	chr1:152647777-152647827	A549	lung:	n/a
48	chr1:152647793-152647843	HNPCEpiC	eye:	n/a
49	chr1:152647777-152647827	NH-A	brain:	n/a
50	chr1:152647777-152647827	PrEC	prostate:	n/a

No data

Variant related genes	Relation type
LCE2C	TF binding region
LCE2B	TF binding region
LCE2C	CpG island
LCE2B	CpG island

Extended variants
information (count: 65 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375534878	chr1:152647118-152647119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548024297	chr1:152647134-152647135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191795189	chr1:152647172-152647173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114732751	chr1:152647177-152647178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115246337	chr1:152647211-152647212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369300853	chr1:152647215-152647216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57647094	chr1:152647216-152647217	Weak transcription	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143463731	chr1:152647228-152647229	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
9	rs12024423	chr1:152647240-152647241	Weak transcription	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567370385	chr1:152647275-152647276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183568029	chr1:152647329-152647330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12057991	chr1:152647332-152647333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112698720	chr1:152647398-152647399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112490088	chr1:152647413-152647414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146737210	chr1:152647425-152647426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577014242	chr1:152647458-152647459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113819835	chr1:152647498-152647499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552657852	chr1:152647502-152647503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191065693	chr1:152647514-152647515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182729271	chr1:152647521-152647522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186629636	chr1:152647535-152647536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530311434	chr1:152647550-152647551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1930126	chr1:152647579-152647580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564012291	chr1:152647586-152647587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191435238	chr1:152647601-152647602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4083761	chr1:152647668-152647669	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs4083760	chr1:152647669-152647670	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs376285259	chr1:152647724-152647725	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs142601755	chr1:152647730-152647731	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs369182797	chr1:152647751-152647752	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs150958579	chr1:152647778-152647779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143331720	chr1:152647789-152647790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11205069	chr1:152647790-152647791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567960140	chr1:152647797-152647798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536848453	chr1:152647856-152647857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184881980	chr1:152647890-152647891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4083759	chr1:152647912-152647913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140756365	chr1:152647927-152647928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4083758	chr1:152647928-152647929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11205070	chr1:152647952-152647953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150099959	chr1:152647962-152647963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188919173	chr1:152647963-152647964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555502255	chr1:152647979-152647980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193066096	chr1:152647998-152647999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185061483	chr1:152647999-152648000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563698182	chr1:152648008-152648009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532863610	chr1:152648045-152648046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546162901	chr1:152648046-152648047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11205071	chr1:152648100-152648101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141893604	chr1:152648130-152648131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152646200-152649000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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