Variant report

Variant	nsv976129
Chromosome Location	chr13:66361078-66363112
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	CTCF	chr13:66362113-66362146	Medullo	brain:	n/a	n/a
2	POLR2A	chr13:66362291-66362847	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:66362447-66362761	GM12878	blood:	n/a	n/a
4	POLR2A	chr13:66361574-66362155	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr13:66362036-66362440	GM12878	blood:	n/a	n/a
6	POLR2A	chr13:66362052-66362406	GM12878	blood:	n/a	n/a
7	STAT3	chr13:66361467-66361581	MCF10A-Er-Src	breast:	n/a	n/a
8	ZBTB33	chr13:66361940-66362246	K562	blood:	n/a	chr13:66362029-66362038 chr13:66361981-66361990

Variant related genes	Relation type
HNRNPA3P5	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543546642	chr13:66362305-66362306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs563459233	chr13:66362308-66362309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573673545	chr13:66362336-66362337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs140263847	chr13:66362338-66362339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184645303	chr13:66362344-66362345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs528825205	chr13:66362353-66362354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551948984	chr13:66362359-66362360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs565371907	chr13:66362371-66362372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs149910814	chr13:66362374-66362375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549873784	chr13:66362379-66362380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111858012	chr13:66362398-66362399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs528851189	chr13:66362420-66362421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs188616386	chr13:66362453-66362454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565959565	chr13:66362485-66362486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564621024	chr13:66362488-66362489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs534638057	chr13:66362507-66362508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs557920166	chr13:66362517-66362518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs369940032	chr13:66362520-66362521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs193274423	chr13:66362525-66362526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs144936533	chr13:66362526-66362527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs556991096	chr13:66362527-66362528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs149042077	chr13:66362531-66362532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs145761267	chr13:66362546-66362547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs185036093	chr13:66362577-66362578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs573462836	chr13:66362603-66362604	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545342148	chr13:66362625-66362626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs386771836	chr13:66362669-66362670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs60930419	chr13:66362670-66362671	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544828292	chr13:66362672-66362673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190174298	chr13:66362679-66362680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529023461	chr13:66362681-66362682	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs548940639	chr13:66362716-66362717	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs565572985	chr13:66362748-66362749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs528107211	chr13:66362755-66362756	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568636659	chr13:66362767-66362768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs571214652	chr13:66362842-66362843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs536813401	chr13:66362847-66362848	Inactive region	TF binding 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:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links