Variant report

Variant	nsv976167
Chromosome Location	chr13:52825657-52833538
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	chr13:52828576-52828649	MCF-7	breast:	n/a	n/a
2	FOXA1	chr13:52832815-52832998	T-47D	breast:	n/a	n/a
3	FOXA2	chr13:52828753-52829238	A549	lung:	n/a	n/a
4	FOXA2	chr13:52828679-52829201	A549	lung:	n/a	n/a
5	GABPA	chr13:52829288-52829374	GM12878	blood:	n/a	n/a
6	POLR2A	chr13:52828572-52828633	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
TPTE2P2	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546981446	chr13:52828587-52828588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs566800541	chr13:52828605-52828606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs139094244	chr13:52828614-52828615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs555674257	chr13:52828616-52828617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569185734	chr13:52828617-52828618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538074118	chr13:52828621-52828622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557900313	chr13:52828622-52828623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs61433618	chr13:52828630-52828631	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553026892	chr13:52828697-52828698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572788047	chr13:52828705-52828706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs58345586	chr13:52828706-52828707	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561990584	chr13:52828741-52828742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575974148	chr13:52828743-52828744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544434006	chr13:52828744-52828745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564085108	chr13:52828745-52828746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs544941821	chr13:52828753-52828754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs546820645	chr13:52828756-52828757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs560620430	chr13:52828768-52828769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529277924	chr13:52828771-52828772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs373967006	chr13:52828796-52828797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548940227	chr13:52828810-52828811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569228305	chr13:52828815-52828816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs368118213	chr13:52828820-52828821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370512883	chr13:52828821-52828822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs56856949	chr13:52828829-52828830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs538109778	chr13:52828836-52828837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs551563769	chr13:52828897-52828898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs9535941	chr13:52828934-52828935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534393796	chr13:52828943-52828944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs552825093	chr13:52828965-52828966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs572871586	chr13:52828978-52828979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs535464598	chr13:52828989-52828990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs555367524	chr13:52828994-52828995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs59254598	chr13:52829004-52829005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs367739205	chr13:52829102-52829103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544470954	chr13:52829122-52829123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs61957325	chr13:52829126-52829127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs61957326	chr13:52829178-52829179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs9526859	chr13:52829188-52829189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
40	rs560405350	chr13:52829219-52829220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs529315804	chr13:52829231-52829232	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs531595925	chr13:52829299-52829300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs551826173	chr13:52829308-52829309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs368318341	chr13:52829309-52829310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571892644	chr13:52829332-52829333	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs536062827	chr13:52832849-52832850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs555903659	chr13:52832866-52832867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs576468275	chr13:52832874-52832875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs572105787	chr13:52832875-52832876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545436522	chr13:52832907-52832908	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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

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