Variant report

Variant	esv3340853
Chromosome Location	chr13:110345776-110348524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:110344285..110347101-chr13:110349065..110351495,2	K562	blood:
2	chr13:110347715..110350344-chr13:110436648..110439966,3	K562	blood:
3	chr13:110347781..110350296-chr13:110438466..110440663,2	K562	blood:
4	chr13:110347663..110350324-chr13:110443673..110445306,2	K562	blood:

Variant related genes	Relation type
ENSG00000185950	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs113613869	chr13:110345785-110345786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117229686	chr13:110345793-110345794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4259915	chr13:110345826-110345827	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12867628	chr13:110345832-110345833	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568980481	chr13:110345838-110345839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537432580	chr13:110345852-110345853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557741637	chr13:110345882-110345883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547486454	chr13:110345908-110345909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35906168	chr13:110345916-110345917	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201523117	chr13:110345973-110345974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539765045	chr13:110345984-110345985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185359199	chr13:110346054-110346055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187301320	chr13:110346066-110346067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375317901	chr13:110346128-110346129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542513640	chr13:110346153-110346154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564022279	chr13:110346165-110346166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542067533	chr13:110346199-110346200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9301405	chr13:110346216-110346217	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141970946	chr13:110346234-110346235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191833468	chr13:110346270-110346271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111630831	chr13:110346317-110346318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555412048	chr13:110346335-110346336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541876562	chr13:110346342-110346343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564528048	chr13:110346365-110346366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577974385	chr13:110346391-110346392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9301406	chr13:110346402-110346403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560472428	chr13:110346413-110346414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529095988	chr13:110346428-110346429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36167681	chr13:110346433-110346434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71125398	chr13:110346453-110346454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184058689	chr13:110346469-110346470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372395493	chr13:110346472-110346473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377147680	chr13:110346474-110346475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188446211	chr13:110346479-110346480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11840755	chr13:110346482-110346483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370087396	chr13:110346484-110346485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9521478	chr13:110346492-110346493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9521479	chr13:110346493-110346494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs36129134	chr13:110346498-110346499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9521480	chr13:110346500-110346501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375811124	chr13:110346501-110346502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369049319	chr13:110346511-110346512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372762135	chr13:110346513-110346514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373250166	chr13:110346518-110346519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375982398	chr13:110346528-110346529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549200812	chr13:110346529-110346530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562402705	chr13:110346530-110346531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180857587	chr13:110346543-110346544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201612220	chr13:110346544-110346545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531637510	chr13:110346548-110346549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Cancer	20164919	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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurodevelopmental disorder	22521361	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110340000-110347400	Weak transcription	Stomach Mucosa	stomach
2	chr13:110341000-110347400	Weak transcription	Fetal Intestine Large	intestine
3	chr13:110341000-110352000	Weak transcription	Fetal Intestine Small	intestine
4	chr13:110342200-110351200	Strong transcription	Dnd41	blood
5	chr13:110344200-110351800	Weak transcription	Colonic Mucosa	Colon
6	chr13:110347200-110348600	Enhancers	K562	blood
7	chr13:110347400-110347600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:110347400-110347600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:110347400-110347600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:110347400-110347600	Enhancers	Fetal Intestine Large	intestine
11	chr13:110347400-110347800	Enhancers	Stomach Mucosa	stomach
12	chr13:110347600-110356800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:110347800-110349000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:110347800-110352000	Weak transcription	Stomach Mucosa	stomach

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