Variant report

Variant	nsv900889
Chromosome Location	chr13:92651148-92772499
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	ARID3A	chr13:92727057-92727252	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:92706389-92707091	HepG2	liver:	n/a	n/a
3	BHLHE40	chr13:92706676-92707043	HepG2	liver:	n/a	n/a
4	BRCA1	chr13:92749581-92749765	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr13:92764641-92764921	A549	lung:	n/a	chr13:92764787-92764798 chr13:92764787-92764800 chr13:92764787-92764800 chr13:92764789-92764800 chr13:92764787-92764800
6	CEBPB	chr13:92748980-92750038	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr13:92726988-92727265	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr13:92764626-92764973	HepG2	liver:	n/a	chr13:92764787-92764798 chr13:92764787-92764800 chr13:92764787-92764800 chr13:92764789-92764800 chr13:92764787-92764800
9	CEBPB	chr13:92700852-92701110	HepG2	liver:	n/a	chr13:92700942-92700953 chr13:92700942-92700955
10	CEBPB	chr13:92706699-92707027	HepG2	liver:	n/a	n/a
11	CEBPB	chr13:92706712-92707049	HepG2	liver:	n/a	n/a
12	CEBPB	chr13:92706727-92707008	HepG2	liver:	n/a	n/a
13	CEBPB	chr13:92764622-92764971	IMR90	lung:	n/a	chr13:92764787-92764798 chr13:92764787-92764800 chr13:92764787-92764800 chr13:92764789-92764800 chr13:92764787-92764800
14	CEBPB	chr13:92751454-92751798	IMR90	lung:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
15	CEBPB	chr13:92726979-92727255	HepG2	liver:	n/a	n/a
16	CEBPB	chr13:92751507-92751691	H1-hESC	embryonic stem cell:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
17	CEBPB	chr13:92660248-92660427	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr13:92764704-92764936	H1-hESC	embryonic stem cell:	n/a	chr13:92764787-92764798 chr13:92764787-92764800 chr13:92764787-92764800 chr13:92764789-92764800 chr13:92764787-92764800
19	CEBPB	chr13:92751464-92751697	A549	lung:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
20	CEBPB	chr13:92706703-92707067	HepG2	liver:	n/a	n/a
21	CEBPB	chr13:92713341-92713583	HepG2	liver:	n/a	chr13:92713478-92713491 chr13:92713478-92713489
22	CEBPB	chr13:92751439-92751782	HepG2	liver:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
23	CEBPD	chr13:92706774-92706956	HepG2	liver:	n/a	n/a
24	CHD2	chr13:92749655-92749821	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr13:92739368-92739441	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr13:92727040-92727190	AG04450	lung:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
27	CTCF	chr13:92727031-92727160	SK-N-SH_RA	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
28	CTCF	chr13:92727016-92727227	HepG2	liver:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
29	CTCF	chr13:92726980-92727130	HEK293	kidney:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
30	CTCF	chr13:92727020-92727170	GM12872	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
31	CTCF	chr13:92727040-92727190	HBMEC	blood vessel:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
32	CTCF	chr13:92726820-92726970	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr13:92726980-92727130	SAEC	small airway:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
34	CTCF	chr13:92670041-92670090	GM19239	blood:	n/a	n/a
35	CTCF	chr13:92727100-92727250	HL-60	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727106-92727119
36	CTCF	chr13:92670185-92670253	MCF-7	breast:	n/a	n/a
37	CTCF	chr13:92726905-92727513	SK-N-SH	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
38	CTCF	chr13:92727080-92727230	HepG2	liver:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
39	CTCF	chr13:92727040-92727190	HMEC	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
40	CTCF	chr13:92727020-92727170	GM12875	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
41	CTCF	chr13:92727032-92727202	Kidney_OC	kidney:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
42	CTCF	chr13:92727040-92727190	HCPEpiC	choroid plexus:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
43	CTCF	chr13:92727048-92727187	Lung_OC	lung:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
44	CTCF	chr13:92727013-92727253	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
45	CTCF	chr13:92727000-92727150	HRE	kidney:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
46	CTCF	chr13:92756380-92756530	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr13:92726983-92727228	LNCaP	prostate:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
48	CTCF	chr13:92727130-92727137	MCF-7	breast:	n/a	n/a
49	CTCF	chr13:92727020-92727170	GM12865	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
50	CTCF	chr13:92727025-92727210	HUVEC	blood vessel:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119

No.	Distal block	Cell Line	Cell type
1	chr13:92696291..92699011-chr13:92703757..92705620,2	K562	blood:
2	chr13:92598658..92599490-chr13:92726652..92727595,3	MCF-7	breast:
3	chr13:92696291..92699011-chr13:92703757..92705620,2	K562	blood:

Variant related genes	Relation type
RNU4ATAC3P	TF binding region

Extended variants
information (count: 1026 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34815606	chr13:92665015-92665016	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566995861	chr13:92665027-92665028	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371981452	chr13:92665049-92665050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529757174	chr13:92665056-92665057	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546235979	chr13:92665083-92665084	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182201229	chr13:92665086-92665087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538298840	chr13:92665109-92665110	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138125690	chr13:92665113-92665114	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569208877	chr13:92665146-92665147	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538016554	chr13:92665179-92665180	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35613616	chr13:92665181-92665182	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555377111	chr13:92665194-92665195	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556079303	chr13:92665198-92665199	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113875986	chr13:92665248-92665249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs574951074	chr13:92665249-92665250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs115244611	chr13:92665289-92665290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191000300	chr13:92665301-92665302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571988391	chr13:92665323-92665324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs181078533	chr13:92665349-92665350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs142703767	chr13:92665365-92665366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs562823120	chr13:92665380-92665381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531906386	chr13:92665398-92665399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs151293799	chr13:92670010-92670011	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528603661	chr13:92670025-92670026	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551447688	chr13:92670040-92670041	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565285294	chr13:92670042-92670043	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374641151	chr13:92670043-92670044	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551289665	chr13:92670056-92670057	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140560136	chr13:92670059-92670060	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188374650	chr13:92670074-92670075	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547191268	chr13:92670083-92670084	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181095837	chr13:92670094-92670095	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201785977	chr13:92670108-92670109	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370593630	chr13:92670111-92670112	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534724580	chr13:92670117-92670118	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557283236	chr13:92670120-92670121	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577215405	chr13:92670128-92670129	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191824187	chr13:92670210-92670211	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112343608	chr13:92670217-92670218	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556816996	chr13:92670230-92670231	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566800186	chr13:92670235-92670236	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573620129	chr13:92670257-92670258	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114340689	chr13:92670261-92670262	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559510143	chr13:92670273-92670274	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375927420	chr13:92670289-92670290	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531270818	chr13:92670306-92670307	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140314369	chr13:92670338-92670339	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545483371	chr13:92670366-92670367	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545330460	chr13:92670397-92670398	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9523481	chr13:92670399-92670400	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92665000-92665200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:92665200-92665400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:92670000-92670200	Enhancers	Spleen	Spleen
4	chr13:92670000-92670400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:92670000-92670400	Enhancers	Pancreas	Pancrea
6	chr13:92677800-92680600	Enhancers	Fetal Lung	lung
7	chr13:92679000-92679400	Enhancers	Adipose Nuclei	Adipose
8	chr13:92679600-92680000	Enhancers	Fetal Heart	heart
9	chr13:92679600-92680200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:92680000-92680200	Enhancers	Gastric	stomach
11	chr13:92680600-92681000	Weak transcription	Fetal Lung	lung
12	chr13:92681000-92681800	Enhancers	Fetal Lung	lung
13	chr13:92681800-92684800	Weak transcription	Fetal Lung	lung
14	chr13:92684800-92685800	Enhancers	Fetal Lung	lung
15	chr13:92685800-92691400	Weak transcription	Fetal Lung	lung
16	chr13:92691400-92692000	Enhancers	Fetal Lung	lung
17	chr13:92696600-92697000	Enhancers	Liver	Liver
18	chr13:92696600-92697400	Enhancers	Fetal Heart	heart
19	chr13:92705400-92707600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr13:92706000-92707600	Enhancers	HepG2	liver
21	chr13:92706400-92706800	Enhancers	Fetal Intestine Small	intestine
22	chr13:92706400-92707600	Enhancers	Liver	Liver
23	chr13:92727000-92727600	Enhancers	Fetal Lung	lung
24	chr13:92734200-92735600	Enhancers	Fetal Heart	heart
25	chr13:92748800-92749800	Enhancers	Hela-S3	cervix
26	chr13:92753000-92755200	Enhancers	Fetal Heart	heart
27	chr13:92753600-92753800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:92753600-92754000	Enhancers	Colon Smooth Muscle	Colon
29	chr13:92754000-92755200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:92754000-92755800	Weak transcription	Colon Smooth Muscle	Colon
31	chr13:92754200-92756200	Enhancers	Ovary	ovary
32	chr13:92754200-92757200	Enhancers	Fetal Lung	lung
33	chr13:92755000-92755400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:92755000-92755600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:92755000-92756600	Enhancers	Fetal Kidney	kidney
36	chr13:92755200-92755600	Weak transcription	Fetal Heart	heart
37	chr13:92755200-92756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:92755200-92756400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr13:92755600-92756000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:92755600-92756400	Enhancers	Fetal Heart	heart
41	chr13:92755800-92756200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:92755800-92756400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:92755800-92756400	Enhancers	Colon Smooth Muscle	Colon
44	chr13:92755800-92756400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr13:92755800-92756600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr13:92755800-92756600	Enhancers	Fetal Intestine Large	intestine
47	chr13:92755800-92756600	Enhancers	Fetal Stomach	stomach
48	chr13:92755800-92757800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:92756000-92756600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:92756000-92756600	Enhancers	HUES6 Cell Line	embryonic stem cell

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