Variant report

Variant	nsv823056
Chromosome Location	chr5:40940585-40955442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40942973..40944757-chr5:40947112..40948755,2	K562	blood:
2	chr5:40953904..40955665-chr5:40958137..40961291,3	K562	blood:
3	chr5:40942973..40944757-chr5:40947112..40948755,2	K562	blood:

Extended variants
information (count: 635 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192857954	chr5:40940615-40940616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143555638	chr5:40940632-40940633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531764238	chr5:40940654-40940655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184488864	chr5:40940667-40940668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554035678	chr5:40940674-40940675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116699176	chr5:40940690-40940691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539158874	chr5:40940747-40940748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533846974	chr5:40940749-40940750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557876391	chr5:40940783-40940784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576091120	chr5:40940804-40940805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543469291	chr5:40940809-40940810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2597739	chr5:40940815-40940816	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547911153	chr5:40940894-40940895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147188757	chr5:40940918-40940919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138850216	chr5:40940992-40940993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189416712	chr5:40941000-40941001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142843928	chr5:40941011-40941012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533199627	chr5:40941013-40941014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2597738	chr5:40941071-40941072	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs192686694	chr5:40941088-40941089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564270700	chr5:40941089-40941090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373041924	chr5:40941119-40941120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78054475	chr5:40941142-40941143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552750662	chr5:40941164-40941165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35003828	chr5:40941165-40941166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549732820	chr5:40941207-40941208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11738230	chr5:40941221-40941222	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs529498952	chr5:40941268-40941269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548115516	chr5:40941282-40941283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566133498	chr5:40941283-40941284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540060072	chr5:40941291-40941292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551166992	chr5:40941308-40941309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569737586	chr5:40941311-40941312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10066341	chr5:40941313-40941314	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369625523	chr5:40941362-40941363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555361293	chr5:40941370-40941371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373260290	chr5:40941375-40941376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573680582	chr5:40941377-40941378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534607510	chr5:40941386-40941387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11744811	chr5:40941392-40941393	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs577744896	chr5:40941405-40941406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150621837	chr5:40941413-40941414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545162383	chr5:40941446-40941447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563160313	chr5:40941447-40941448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576089835	chr5:40941467-40941468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543515577	chr5:40941491-40941492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184716238	chr5:40941533-40941534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143714980	chr5:40941546-40941547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536182572	chr5:40941547-40941548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146839415	chr5:40941556-40941557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40931200-40992200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:40931800-40991000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:40932800-40942000	Strong transcription	Fetal Lung	lung
4	chr5:40933400-40956400	Weak transcription	Fetal Brain Male	brain
5	chr5:40937000-40959600	Weak transcription	Left Ventricle	heart
6	chr5:40938800-40943400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:40939200-40941800	Weak transcription	Ovary	ovary
8	chr5:40941800-40942400	Strong transcription	Ovary	ovary
9	chr5:40942000-40944000	Weak transcription	Fetal Lung	lung
10	chr5:40942400-40947600	Weak transcription	Ovary	ovary
11	chr5:40943400-40949600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:40944000-40945800	Strong transcription	Fetal Lung	lung
13	chr5:40944600-40945000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:40945200-40958200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:40945800-40947200	Weak transcription	Fetal Lung	lung
16	chr5:40947200-40953400	Strong transcription	Fetal Lung	lung
17	chr5:40947600-40948600	Strong transcription	Ovary	ovary
18	chr5:40948600-40948800	Genic enhancers	Ovary	ovary
19	chr5:40948800-40951400	Weak transcription	Ovary	ovary
20	chr5:40949600-40953600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:40951200-40959600	Weak transcription	Pancreas	Pancrea
22	chr5:40951400-40952000	Enhancers	Fetal Heart	heart
23	chr5:40951400-40953400	Strong transcription	Ovary	ovary
24	chr5:40953400-40954800	Weak transcription	Ovary	ovary
25	chr5:40953400-40955200	Weak transcription	Fetal Lung	lung
26	chr5:40953600-40956800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:40954800-40968000	Strong transcription	Ovary	ovary
28	chr5:40955200-40967600	Strong transcription	Fetal Lung	lung
29	chr5:40955400-40955800	Enhancers	HUES64 Cell Line	embryonic stem cell

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