Variant report

Variant	esv3338291
Chromosome Location	chr13:52886397-52890150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52885798..52888785-chr13:52889900..52891955,2	MCF-7	breast:
2	chr13:52885798..52888785-chr13:52889900..52891955,2	MCF-7	breast:
3	chr13:52888663..52890246-chr13:52890532..52893511,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THSD1-4	chr13:52889589-52890110	NONHSAT033983

Extended variants
information (count: 177 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs145196656	chr13:52886424-52886425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186566530	chr13:52886438-52886439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190421350	chr13:52886439-52886440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568148171	chr13:52886466-52886467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9536004	chr13:52886475-52886476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs550636468	chr13:52886494-52886495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570515315	chr13:52886524-52886525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182629724	chr13:52886544-52886545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553084675	chr13:52886583-52886584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554690911	chr13:52886584-52886585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567202583	chr13:52886595-52886596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187624955	chr13:52886610-52886611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9536005	chr13:52886643-52886644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs144942746	chr13:52886644-52886645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543564452	chr13:52886646-52886647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557046489	chr13:52886666-52886667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576914019	chr13:52886721-52886722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545822443	chr13:52886732-52886733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559081489	chr13:52886754-52886755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565826070	chr13:52886797-52886798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190543150	chr13:52886812-52886813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376168363	chr13:52886853-52886854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541725970	chr13:52886877-52886878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561571345	chr13:52886905-52886906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534763299	chr13:52886906-52886907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530574540	chr13:52886930-52886931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183477792	chr13:52886934-52886935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373211423	chr13:52886969-52886970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147923511	chr13:52886985-52886986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533265533	chr13:52886994-52886995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547001542	chr13:52887005-52887006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566736569	chr13:52887010-52887011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376550345	chr13:52887043-52887044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536161167	chr13:52887052-52887053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535899700	chr13:52887062-52887063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144044942	chr13:52887077-52887078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555755908	chr13:52887084-52887085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369267360	chr13:52887102-52887103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538397861	chr13:52887118-52887119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188646999	chr13:52887153-52887154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141784549	chr13:52887166-52887167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192740683	chr13:52887168-52887169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375731933	chr13:52887169-52887170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552950930	chr13:52887173-52887174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367893351	chr13:52887236-52887237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574647302	chr13:52887279-52887280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184129035	chr13:52887379-52887380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572724651	chr13:52887416-52887417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542113244	chr13:52887417-52887418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561609204	chr13:52887419-52887420	Weak transcription	n/a	n/a	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52884600-52895400	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links