Variant report

Variant	nsv9083
Chromosome Location	chr13:66355467-66363273
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	chr13:66357410-66357610	HepG2	liver:	n/a	n/a
2	CTCF	chr13:66357800-66357950	GM12869	blood:	n/a	n/a
3	CTCF	chr13:66362113-66362146	Medullo	brain:	n/a	n/a
4	MAFK	chr13:66356643-66356744	HepG2	liver:	n/a	n/a
5	MAFK	chr13:66363166-66363280	HepG2	liver:	n/a	chr13:66363235-66363250 chr13:66363240-66363251 chr13:66363239-66363250 chr13:66363240-66363251 chr13:66363239-66363250
6	MAFK	chr13:66363128-66363359	IMR90	lung:	n/a	chr13:66363235-66363250 chr13:66363240-66363251 chr13:66363239-66363250 chr13:66363240-66363251 chr13:66363239-66363250
7	MAFK	chr13:66363132-66363401	HepG2	liver:	n/a	chr13:66363235-66363250 chr13:66363240-66363251 chr13:66363239-66363250 chr13:66363240-66363251 chr13:66363239-66363250
8	MYC	chr13:66357642-66357643	MCF-7	breast:	n/a	n/a
9	MYC	chr13:66357630-66357637	MCF-7	breast:	n/a	n/a
10	MYC	chr13:66357653-66357694	MCF-7	breast:	n/a	n/a
11	POLR2A	chr13:66357582-66357664	MCF-7	breast:	n/a	n/a
12	POLR2A	chr13:66362052-66362406	GM12878	blood:	n/a	n/a
13	POLR2A	chr13:66362291-66362847	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr13:66355489-66355545	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr13:66361574-66362155	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr13:66358153-66358216	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr13:66362036-66362440	GM12878	blood:	n/a	n/a
18	POLR2A	chr13:66362447-66362761	GM12878	blood:	n/a	n/a
19	POLR2A	chr13:66357672-66357718	MCF-7	breast:	n/a	n/a
20	RFX5	chr13:66363211-66364848	IMR90	lung:	n/a	chr13:66364141-66364150
21	STAT3	chr13:66359387-66359435	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr13:66359999-66360199	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr13:66361467-66361581	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr13:66360011-66360303	MCF10A-Er-Src	breast:	n/a	n/a
25	ZBTB33	chr13:66361940-66362246	K562	blood:	n/a	chr13:66362029-66362038 chr13:66361981-66361990

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:66358245..66360880-chr16:71346372..71347872,2	MCF-7	breast:
2	chr13:66355137..66357196-chr13:66362374..66364366,2	K562	blood:

Variant related genes	Relation type
HNRNPA3P5	TF binding region
ENSG00000236565	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142843505	chr13:66355467-66355468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150616394	chr13:66355546-66355547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535398321	chr13:66355566-66355567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555441230	chr13:66355606-66355607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572365160	chr13:66355627-66355628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9317534	chr13:66355635-66355636	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565554242	chr13:66355662-66355663	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139673351	chr13:66355703-66355704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577735995	chr13:66355738-66355739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149962612	chr13:66355742-66355743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9540552	chr13:66355762-66355763	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76303246	chr13:66355769-66355770	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542604626	chr13:66355804-66355805	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182096279	chr13:66355849-66355850	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373016972	chr13:66355906-66355907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575464488	chr13:66355912-66355913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186337390	chr13:66356007-66356008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560947810	chr13:66356020-66356021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565460941	chr13:66356034-66356035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531086711	chr13:66356042-66356043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191587629	chr13:66356050-66356051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569757561	chr13:66356099-66356100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182100354	chr13:66356100-66356101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535589840	chr13:66356102-66356103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548974630	chr13:66356113-66356114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565711961	chr13:66356120-66356121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540220981	chr13:66356146-66356147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146510487	chr13:66356167-66356168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558007670	chr13:66356179-66356180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577866125	chr13:66356187-66356188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537212126	chr13:66356210-66356211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141042012	chr13:66356223-66356224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114115638	chr13:66356224-66356225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542741875	chr13:66356277-66356278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73500540	chr13:66356289-66356290	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573156658	chr13:66356320-66356321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs17077331	chr13:66356341-66356342	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
38	rs143365461	chr13:66356393-66356394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113888087	chr13:66356479-66356480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534178379	chr13:66356519-66356520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531149138	chr13:66356583-66356584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551191683	chr13:66356594-66356595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190890585	chr13:66356633-66356634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs61954142	chr13:66356658-66356659	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370070768	chr13:66356681-66356682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549062259	chr13:66356685-66356686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146709573	chr13:66356732-66356733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534564962	chr13:66356771-66356772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550918241	chr13:66356834-66356835	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78835340	chr13:66356841-66356842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66357600-66358000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:66358000-66358400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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