Variant report

Variant	esv3340424
Chromosome Location	chr13:55499301-55503699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 183 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562312733	chr13:55499305-55499306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531445166	chr13:55499351-55499352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180772941	chr13:55499410-55499411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571008889	chr13:55499428-55499429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374313130	chr13:55499457-55499458	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570954446	chr13:55499505-55499506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537560550	chr13:55499506-55499507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78564801	chr13:55499525-55499526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143096961	chr13:55499550-55499551	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536120664	chr13:55499572-55499573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555739103	chr13:55499648-55499649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77648447	chr13:55499685-55499686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139930235	chr13:55499696-55499697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185172739	chr13:55499707-55499708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578132345	chr13:55499736-55499737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540855353	chr13:55499743-55499744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112779667	chr13:55499761-55499762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574292342	chr13:55499763-55499764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542912344	chr13:55499767-55499768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562507281	chr13:55499768-55499769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531258837	chr13:55499779-55499780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551350035	chr13:55499810-55499811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539880672	chr13:55499839-55499840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149404938	chr13:55499845-55499846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144765108	chr13:55499861-55499862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368204741	chr13:55499864-55499865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547204071	chr13:55499870-55499871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575407628	chr13:55499881-55499882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567080064	chr13:55499894-55499895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560169526	chr13:55499938-55499939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536548769	chr13:55499959-55499960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549854292	chr13:55499974-55499975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9563263	chr13:55500068-55500069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569923720	chr13:55500071-55500072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537885826	chr13:55500130-55500131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558160310	chr13:55500171-55500172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571792199	chr13:55500211-55500212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534253309	chr13:55500240-55500241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554416199	chr13:55500244-55500245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573903780	chr13:55500249-55500250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192139529	chr13:55500254-55500255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73204619	chr13:55500262-55500263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73204620	chr13:55500322-55500323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117313123	chr13:55500335-55500336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544634949	chr13:55500361-55500362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145087092	chr13:55500385-55500386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200459201	chr13:55500387-55500388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199696943	chr13:55500389-55500390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57408214	chr13:55500392-55500393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376158071	chr13:55500393-55500394	Weak transcription	n/a	n/a	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
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	17245344	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
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	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
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55494200-55508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:55499200-55499600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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