Variant report

Variant	esv3368431
Chromosome Location	chr13:52887618-52891445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THSD1-4	chr13:52889589-52890110	NONHSAT033983
2	lnc-THSD1-4	chr13:52890481-52890534	NONHSAT033983

No data

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	rs557258231	chr13:52887628-52887629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539543874	chr13:52887653-52887654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375711886	chr13:52887664-52887665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369126501	chr13:52887677-52887678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9536006	chr13:52887707-52887708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs545048928	chr13:52887733-52887734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535146116	chr13:52887737-52887738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554940403	chr13:52887763-52887764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189050287	chr13:52887770-52887771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544088046	chr13:52887824-52887825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563953580	chr13:52887825-52887826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181412450	chr13:52887860-52887861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540722989	chr13:52887892-52887893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560344065	chr13:52887915-52887916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185718890	chr13:52887916-52887917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549445508	chr13:52887927-52887928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190197651	chr13:52887953-52887954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558584029	chr13:52887990-52887991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76048880	chr13:52888003-52888004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182385027	chr13:52888008-52888009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112986816	chr13:52888062-52888063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186104949	chr13:52888069-52888070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116523320	chr13:52888092-52888093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566496757	chr13:52888099-52888100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535159473	chr13:52888146-52888147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189772377	chr13:52888207-52888208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9536007	chr13:52888211-52888212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs116064404	chr13:52888240-52888241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561341765	chr13:52888241-52888242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181359874	chr13:52888257-52888258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540095537	chr13:52888269-52888270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560291843	chr13:52888301-52888302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140198970	chr13:52888309-52888310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185584671	chr13:52888311-52888312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150285984	chr13:52888337-52888338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137920636	chr13:52888340-52888341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530344661	chr13:52888403-52888404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545725939	chr13:52888445-52888446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565481243	chr13:52888448-52888449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527987563	chr13:52888497-52888498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142635737	chr13:52888501-52888502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367928060	chr13:52888503-52888504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567834426	chr13:52888526-52888527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528972350	chr13:52888540-52888541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144913370	chr13:52888575-52888576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138657445	chr13:52888581-52888582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141790037	chr13:52888597-52888598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557723546	chr13:52888608-52888609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113011928	chr13:52888611-52888612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571497364	chr13:52888623-52888624	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

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