Variant report

Variant	nsv1005047
Chromosome Location	chr1:152636316-152656590
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	chr1:152645922-152646032	K562	blood:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152645928-152645941
2	CEBPB	chr1:152645918-152646083	A549	lung:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152646021-152646034 chr1:152645928-152645941
3	CEBPB	chr1:152645885-152646048	HepG2	liver:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152646021-152646034 chr1:152645928-152645941
4	CEBPB	chr1:152647617-152647851	HepG2	liver:	n/a	chr1:152647675-152647686 chr1:152647676-152647687
5	CTCF	chr1:152648701-152648755	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr1:152638220-152638370	GM12867	blood:	n/a	n/a
7	CTCF	chr1:152638933-152639008	GM20000	blood:	n/a	n/a
8	FOS	chr1:152645515-152645721	MCF10A-Er-Src	breast:	n/a	chr1:152645656-152645664 chr1:152645655-152645665
9	FOS	chr1:152645503-152645789	MCF10A-Er-Src	breast:	n/a	chr1:152645656-152645664 chr1:152645655-152645665
10	FOS	chr1:152656503-152656535	MCF10A-Er-Src	breast:	n/a	chr1:152656519-152656527 chr1:152656518-152656528
11	FOS	chr1:152644644-152644748	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr1:152643039-152643139	A549	lung:	n/a	n/a
13	POLR2A	chr1:152645659-152645871	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:152644383-152644437	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr1:152647853-152647877	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:152645648-152645658	GM12878	blood:	n/a	n/a
17	RCOR1	chr1:152652906-152652979	K562	blood:	n/a	n/a
18	STAT3	chr1:152645608-152645679	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr1:152648817-152649013	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr1:152645631-152645633	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr1:152648832-152649007	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr1:152648864-152649064	MCF10A-Er-Src	breast:	n/a	n/a
23	TAL1	chr1:152650573-152650804	K562	blood:	n/a	chr1:152650598-152650606

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152636834-152636884	NT2-D1	testis:	n/a
2	chr1:152636834-152636884	NT2-D1	testis:	n/a
3	chr1:152647793-152647843	Jurkat	blood:	n/a
4	chr1:152647777-152647827	Caco-2	colon:	n/a
5	chr1:152636834-152636884	NB4	blood:	n/a
6	chr1:152646533-152646583	NT2-D1	testis:	n/a
7	chr1:152647793-152647843	AG04449	skin:	fetal
8	chr1:152647216-152647266	GM12891	blood:	n/a
9	chr1:152636834-152636884	GM12878	blood:	n/a
10	chr1:152647216-152647266	MCF-7	breast:	n/a
11	chr1:152648726-152648776	ECC-1	luminal epithelium:	n/a
12	chr1:152647777-152647827	SK-N-SH_RA	brain:	n/a
13	chr1:152647216-152647266	ECC-1	luminal epithelium:	n/a
14	chr1:152636834-152636884	LNCaP	prostate:	n/a
15	chr1:152647793-152647843	SK-N-SH	brain:	n/a
16	chr1:152647777-152647827	MCF10A-Er-Src	breast:	n/a
17	chr1:152647777-152647827	HCF	heart:	n/a
18	chr1:152646533-152646583	HNPCEpiC	eye:	n/a
19	chr1:152647777-152647827	NH-A	brain:	n/a
20	chr1:152647793-152647843	HRCEpiC	kidney:	n/a
21	chr1:152647216-152647266	IMR90	lung:	fetal
22	chr1:152636834-152636884	H1-hESC	embryonic stem cell:	embryo
23	chr1:152646533-152646583	MCF-7	breast:	n/a
24	chr1:152648726-152648776	SK-N-SH	brain:	n/a
25	chr1:152647777-152647827	Jurkat	blood:	n/a
26	chr1:152647777-152647827	HepG2	liver:	n/a
27	chr1:152646533-152646583	HCT-116	colon:	n/a
28	chr1:152636834-152636884	BJ	skin:	n/a
29	chr1:152646533-152646583	GM19239	blood:	n/a
30	chr1:152648726-152648776	NHDF-neo	bronchial:	n/a
31	chr1:152648726-152648776	HRCEpiC	kidney:	n/a
32	chr1:152647216-152647266	SK-N-MC	brain:	n/a
33	chr1:152647777-152647827	Hela-S3	cervix:	n/a
34	chr1:152648726-152648776	NHBE	bronchial:	n/a
35	chr1:152647216-152647266	LNCaP	prostate:	n/a
36	chr1:152636834-152636884	SK-N-SH_RA	brain:	n/a
37	chr1:152647793-152647843	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:152647777-152647827	A549	lung:	n/a
39	chr1:152647793-152647843	A549	lung:	n/a
40	chr1:152647216-152647266	NHBE	bronchial:	n/a
41	chr1:152646533-152646583	SKMC	muscle:	n/a
42	chr1:152647793-152647843	HEEpiC	esophagus:	n/a
43	chr1:152636834-152636884	AG09309	skin:	n/a
44	chr1:152636834-152636884	U87	brain:	n/a
45	chr1:152647216-152647266	Jurkat	blood:	n/a
46	chr1:152646533-152646583	AG04450	lung:	fetal
47	chr1:152646533-152646583	NH-A	brain:	n/a
48	chr1:152648726-152648776	SK-N-MC	brain:	n/a
49	chr1:152648726-152648776	AG10803	skin:	n/a
50	chr1:152646533-152646583	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:152640283..152643005-chr1:152645549..152648170,2	MCF-7	breast:
2	chr1:152636333..152638200-chr1:152640382..152642343,2	K562	blood:
3	chr1:152636333..152638200-chr1:152640382..152642343,2	K562	blood:
4	chr1:152632060..152634840-chr1:152638354..152640760,3	MCF-7	breast:

Variant related genes	Relation type
LCE2C	TF binding region
LCE2B	TF binding region
LCE2C	CpG island
LCE2B	CpG island
ENSG00000187180	chromatin interactions

Extended variants
information (count: 419 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1831637	chr1:152640287-152640288	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189590798	chr1:152640457-152640458	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567816239	chr1:152640508-152640509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536971004	chr1:152640548-152640549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73009164	chr1:152640584-152640585	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370580449	chr1:152640593-152640594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181528503	chr1:152640598-152640599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570108219	chr1:152640602-152640603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372877604	chr1:152640732-152640733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542358244	chr1:152640748-152640749	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539033457	chr1:152640754-152640755	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528731817	chr1:152640769-152640770	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558866004	chr1:152640785-152640786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77313071	chr1:152640789-152640790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76085548	chr1:152640864-152640865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554489989	chr1:152640869-152640870	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141628392	chr1:152640889-152640890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76428162	chr1:152640893-152640894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs72702855	chr1:152640981-152640982	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185984004	chr1:152641004-152641005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545489727	chr1:152641047-152641048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143471753	chr1:152641083-152641084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552537872	chr1:152641116-152641117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528193884	chr1:152641120-152641121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189130305	chr1:152641134-152641135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567800218	chr1:152641179-152641180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564035272	chr1:152641200-152641201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550543842	chr1:152641209-152641210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7541676	chr1:152641341-152641342	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs72506300	chr1:152641342-152641343	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377220698	chr1:152641348-152641349	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs398074312	chr1:152641349-152641350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539300527	chr1:152641399-152641400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552306020	chr1:152641443-152641444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531615407	chr1:152641491-152641492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566037781	chr1:152641497-152641498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75883027	chr1:152641535-152641536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549735958	chr1:152641538-152641539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186529697	chr1:152641556-152641557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs147976537	chr1:152641618-152641619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532998020	chr1:152641636-152641637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs76465163	chr1:152641673-152641674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536850485	chr1:152641681-152641682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190998649	chr1:152641694-152641695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12095154	chr1:152641701-152641702	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535239443	chr1:152641726-152641727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73009165	chr1:152641741-152641742	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559111600	chr1:152641760-152641761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150697116	chr1:152641763-152641764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541603842	chr1:152641771-152641772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152643000-152643200	Enhancers	Esophagus	oesophagus
2	chr1:152645800-152646000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:152646200-152649000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:152648600-152649000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr1:152649000-152649400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:152649000-152649400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:152652800-152654400	Enhancers	Fetal Brain Male	brain
8	chr1:152654800-152655000	Enhancers	Fetal Brain Male	brain
9	chr1:152656200-152656800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:152656200-152657000	Enhancers	NHDF-Ad	bronchial

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