Variant report

Variant	nsv900891
Chromosome Location	chr13:92668623-92757118
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	chr13:92706389-92707091	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:92727057-92727252	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	chr13:92751439-92751782	HepG2	liver:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
6	CEBPB	chr13:92713341-92713583	HepG2	liver:	n/a	chr13:92713478-92713491 chr13:92713478-92713489
7	CEBPB	chr13:92706699-92707027	HepG2	liver:	n/a	n/a
8	CEBPB	chr13:92748980-92750038	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr13:92706703-92707067	HepG2	liver:	n/a	n/a
10	CEBPB	chr13:92706727-92707008	HepG2	liver:	n/a	n/a
11	CEBPB	chr13:92751507-92751691	H1-hESC	embryonic stem cell:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
12	CEBPB	chr13:92751464-92751697	A549	lung:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
13	CEBPB	chr13:92726979-92727255	HepG2	liver:	n/a	n/a
14	CEBPB	chr13:92751454-92751798	IMR90	lung:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
15	CEBPB	chr13:92706712-92707049	HepG2	liver:	n/a	n/a
16	CEBPB	chr13:92700852-92701110	HepG2	liver:	n/a	chr13:92700942-92700953 chr13:92700942-92700955
17	CEBPB	chr13:92726988-92727265	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPD	chr13:92706774-92706956	HepG2	liver:	n/a	n/a
19	CHD2	chr13:92749655-92749821	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr13:92727003-92727188	GM10266	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
21	CTCF	chr13:92726905-92727513	SK-N-SH	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
22	CTCF	chr13:92727007-92727453	A549	lung:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
23	CTCF	chr13:92727100-92727250	HFF-Myc	foreskin:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727106-92727119
24	CTCF	chr13:92727402-92727429	Medullo	brain:	n/a	n/a
25	CTCF	chr13:92727014-92727224	HepG2	liver:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
26	CTCF	chr13:92727020-92727170	AG04450	lung:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
27	CTCF	chr13:92716500-92716650	BE2_C	brain:	n/a	n/a
28	CTCF	chr13:92726900-92727050	HCM	heart:	n/a	n/a
29	CTCF	chr13:92727048-92727197	GM13976	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
30	CTCF	chr13:92727031-92727160	SK-N-SH_RA	brain:	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	chr13:92727000-92727150	GM06990	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
33	CTCF	chr13:92726980-92727130	HEK293	kidney:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
34	CTCF	chr13:92727040-92727190	A549	lung:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
35	CTCF	chr13:92727080-92727230	GM12878	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
36	CTCF	chr13:92670185-92670253	MCF-7	breast:	n/a	n/a
37	CTCF	chr13:92756380-92756530	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr13:92716531-92716651	HepG2	liver:	n/a	n/a
39	CTCF	chr13:92727020-92727170	HCFaa	heart:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
40	CTCF	chr13:92726980-92727130	NHEK	skin:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
41	CTCF	chr13:92727060-92727210	HMEC	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
42	CTCF	chr13:92727060-92727210	GM12873	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
43	CTCF	chr13:92727040-92727190	HMEC	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
44	CTCF	chr13:92727020-92727170	NB4	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
45	CTCF	chr13:92727020-92727170	GM12875	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
46	CTCF	chr13:92727021-92727211	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
47	CTCF	chr13:92727051-92727156	NHEK	skin:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
48	CTCF	chr13:92727120-92727270	HCM	heart:	n/a	n/a
49	CTCF	chr13:92727000-92727150	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
50	CTCF	chr13:92746737-92746809	GM10248	blood:	n/a	n/a

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

Variant related genes	Relation type
RNU4ATAC3P	TF binding region

Extended variants
information (count: 963 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:963 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151293799	chr13:92670010-92670011	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528603661	chr13:92670025-92670026	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551447688	chr13:92670040-92670041	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565285294	chr13:92670042-92670043	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374641151	chr13:92670043-92670044	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551289665	chr13:92670056-92670057	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140560136	chr13:92670059-92670060	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188374650	chr13:92670074-92670075	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547191268	chr13:92670083-92670084	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181095837	chr13:92670094-92670095	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201785977	chr13:92670108-92670109	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370593630	chr13:92670111-92670112	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534724580	chr13:92670117-92670118	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557283236	chr13:92670120-92670121	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577215405	chr13:92670128-92670129	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191824187	chr13:92670210-92670211	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112343608	chr13:92670217-92670218	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556816996	chr13:92670230-92670231	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566800186	chr13:92670235-92670236	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573620129	chr13:92670257-92670258	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114340689	chr13:92670261-92670262	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559510143	chr13:92670273-92670274	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375927420	chr13:92670289-92670290	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531270818	chr13:92670306-92670307	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140314369	chr13:92670338-92670339	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545483371	chr13:92670366-92670367	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545330460	chr13:92670397-92670398	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9523481	chr13:92670399-92670400	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs111375811	chr13:92670400-92670401	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16946937	chr13:92677816-92677817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565467550	chr13:92677822-92677823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534292582	chr13:92677861-92677862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557348576	chr13:92677879-92677880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189942479	chr13:92677885-92677886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557014936	chr13:92677904-92677905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376909792	chr13:92677949-92677950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1536369	chr13:92677965-92677966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528595070	chr13:92677980-92677981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140810742	chr13:92678004-92678005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181712902	chr13:92678020-92678021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1536368	chr13:92678071-92678072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9560901	chr13:92678099-92678100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565281211	chr13:92678177-92678178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530970783	chr13:92678245-92678246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560422656	chr13:92678268-92678269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531230083	chr13:92678298-92678299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544882837	chr13:92678318-92678319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374220427	chr13:92678342-92678343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550900246	chr13:92678368-92678369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561462260	chr13:92678379-92678380	Enhancers	n/a	n/a	Overlapped CNVs	n/a

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:53 , 50 per page) page: 1 2

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

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