Variant report

Variant	esv2549303
Chromosome Location	chr13:52666356-52667866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52585471..52587139-chr13:52665944..52668644,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253710	chromatin interactions
ENSG00000123191	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145867443	chr13:52666358-52666359	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373776372	chr13:52666362-52666363	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73184358	chr13:52666454-52666455	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140552427	chr13:52666455-52666456	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533183384	chr13:52666478-52666479	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569352507	chr13:52666522-52666523	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34826302	chr13:52666560-52666561	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs397719761	chr13:52666569-52666570	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs397794056	chr13:52666570-52666571	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs199853071	chr13:52666571-52666572	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201173191	chr13:52666572-52666573	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531806100	chr13:52666579-52666580	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547168569	chr13:52666688-52666689	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551605879	chr13:52666692-52666693	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566756501	chr13:52666701-52666702	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533949302	chr13:52666720-52666721	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554435903	chr13:52666737-52666738	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144410186	chr13:52666754-52666755	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150842841	chr13:52666760-52666761	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs556370921	chr13:52666867-52666868	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181674367	chr13:52666886-52666887	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544269657	chr13:52666895-52666896	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368630433	chr13:52666898-52666899	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548557599	chr13:52666902-52666903	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187587226	chr13:52666912-52666913	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539890804	chr13:52666922-52666923	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560465062	chr13:52666936-52666937	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs574012461	chr13:52666969-52666970	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs542828988	chr13:52666984-52666985	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562644687	chr13:52666985-52666986	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531407996	chr13:52666989-52666990	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139319272	chr13:52666996-52666997	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs191865099	chr13:52667036-52667037	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs149978343	chr13:52667091-52667092	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201813265	chr13:52667149-52667150	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568400564	chr13:52667191-52667192	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145214408	chr13:52667217-52667218	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs142357047	chr13:52667227-52667228	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs55715265	chr13:52667228-52667229	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200511571	chr13:52667266-52667267	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200452383	chr13:52667274-52667275	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs569871222	chr13:52667279-52667280	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs538871396	chr13:52667300-52667301	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557041954	chr13:52667319-52667320	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs77133890	chr13:52667323-52667324	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs112601095	chr13:52667392-52667393	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs369161035	chr13:52667400-52667401	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs182906564	chr13:52667466-52667467	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs533760509	chr13:52667487-52667488	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553838190	chr13:52667506-52667507	Inactive region	Chromatin interactive region	2 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:

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

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