Variant report

Variant	nsv1049238
Chromosome Location	chr13:92667284-92717880
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	BHLHE40	chr13:92706676-92707043	HepG2	liver:	n/a	n/a
3	CEBPB	chr13:92706703-92707067	HepG2	liver:	n/a	n/a
4	CEBPB	chr13:92706727-92707008	HepG2	liver:	n/a	n/a
5	CEBPB	chr13:92706699-92707027	HepG2	liver:	n/a	n/a
6	CEBPB	chr13:92713341-92713583	HepG2	liver:	n/a	chr13:92713478-92713491 chr13:92713478-92713489
7	CEBPB	chr13:92706712-92707049	HepG2	liver:	n/a	n/a
8	CEBPB	chr13:92700852-92701110	HepG2	liver:	n/a	chr13:92700942-92700953 chr13:92700942-92700955
9	CEBPD	chr13:92706774-92706956	HepG2	liver:	n/a	n/a
10	CTCF	chr13:92670041-92670090	GM19239	blood:	n/a	n/a
11	CTCF	chr13:92716560-92716710	NB4	blood:	n/a	n/a
12	CTCF	chr13:92670185-92670253	MCF-7	breast:	n/a	n/a
13	CTCF	chr13:92716560-92716710	BE2_C	brain:	n/a	n/a
14	CTCF	chr13:92716531-92716651	HepG2	liver:	n/a	n/a
15	CTCF	chr13:92716480-92716630	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr13:92716580-92716638	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr13:92716500-92716650	BE2_C	brain:	n/a	n/a
18	CTCF	chr13:92716596-92716687	HepG2	liver:	n/a	n/a
19	CTCF	chr13:92717595-92717621	GM20000	blood:	n/a	n/a
20	E2F4	chr13:92671262-92671774	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr13:92668702-92668819	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr13:92695143-92695160	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr13:92706733-92707098	HepG2	liver:	n/a	n/a
24	EP300	chr13:92706624-92707110	HepG2	liver:	n/a	n/a
25	EP300	chr13:92706797-92706982	HepG2	liver:	n/a	n/a
26	FOS	chr13:92715209-92715383	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr13:92690442-92690507	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr13:92689508-92689622	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr13:92706315-92707255	HepG2	liver:	n/a	chr13:92706465-92706477 chr13:92706492-92706504
30	FOXA1	chr13:92706760-92707145	HepG2	liver:	n/a	n/a
31	FOXA1	chr13:92706708-92707092	HepG2	liver:	n/a	n/a
32	FOXA1	chr13:92706323-92707255	HepG2	liver:	n/a	chr13:92706465-92706477 chr13:92706492-92706504
33	FOXA1	chr13:92706302-92706658	HepG2	liver:	n/a	chr13:92706465-92706477 chr13:92706492-92706504
34	FOXA2	chr13:92706391-92706616	HepG2	liver:	n/a	chr13:92706465-92706477 chr13:92706492-92706504
35	FOXA2	chr13:92706729-92707164	HepG2	liver:	n/a	n/a
36	FOXA2	chr13:92706251-92707457	HepG2	liver:	n/a	chr13:92706465-92706477 chr13:92706492-92706504
37	GATA3	chr13:92700604-92700780	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr13:92696598-92696950	T-47D	breast:	n/a	n/a
39	HDAC2	chr13:92706722-92707066	HepG2	liver:	n/a	n/a
40	HDAC2	chr13:92706767-92707123	HepG2	liver:	n/a	n/a
41	HNF4A	chr13:92706760-92707114	HepG2	liver:	n/a	chr13:92706851-92706866
42	HNF4A	chr13:92706694-92707013	HepG2	liver:	n/a	chr13:92706851-92706866
43	HNF4G	chr13:92706752-92707041	HepG2	liver:	n/a	chr13:92706852-92706867
44	HNF4G	chr13:92706558-92706983	HepG2	liver:	n/a	chr13:92706852-92706867
45	JUND	chr13:92675434-92675490	HepG2	liver:	n/a	n/a
46	MAFF	chr13:92667774-92668064	HepG2	liver:	n/a	n/a
47	MAFK	chr13:92667816-92668054	HepG2	liver:	n/a	chr13:92667903-92667923
48	MAFK	chr13:92706766-92707018	HepG2	liver:	n/a	n/a
49	MAFK	chr13:92717209-92717301	HepG2	liver:	n/a	chr13:92717223-92717237 chr13:92717225-92717236 chr13:92717225-92717236
50	MAFK	chr13:92667741-92668069	HepG2	liver:	n/a	chr13:92667903-92667923

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:92696291..92699011-chr13:92703757..92705620,2	K562	blood:
2	chr13:92696291..92699011-chr13:92703757..92705620,2	K562	blood:

Variant related genes	Relation type
RNU4ATAC3P	TF binding region

Extended variants
information (count: 696 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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:88)

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

Chromatin state (count:20 , 50 per page) page: 1

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links