Variant report

Variant	nsv965600
Chromosome Location	chr5:41124587-41135092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41119689..41123287-chr5:41124152..41126947,3	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs539261040	chr5:41124640-41124641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186244960	chr5:41124670-41124671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10512761	chr5:41124718-41124719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12188046	chr5:41124769-41124770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191054682	chr5:41124916-41124917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554367316	chr5:41124928-41124929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572837156	chr5:41124934-41124935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372409422	chr5:41124939-41124940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372475171	chr5:41124940-41124941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75297079	chr5:41124947-41124948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558452173	chr5:41124953-41124954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9292802	chr5:41124963-41124964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544018504	chr5:41124973-41124974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370951973	chr5:41125046-41125047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1423399	chr5:41125072-41125073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73750267	chr5:41125074-41125075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146150517	chr5:41125115-41125116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182152328	chr5:41125129-41125130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534899097	chr5:41125165-41125166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139995721	chr5:41125191-41125192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546991928	chr5:41125287-41125288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565595781	chr5:41125301-41125302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532817132	chr5:41125348-41125349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551201748	chr5:41125349-41125350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149865321	chr5:41125369-41125370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186193708	chr5:41125439-41125440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554680770	chr5:41125469-41125470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191063884	chr5:41125496-41125497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149506969	chr5:41125556-41125557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144902902	chr5:41125612-41125613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374892002	chr5:41125645-41125646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543483399	chr5:41125668-41125669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34107245	chr5:41125697-41125698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183324270	chr5:41125710-41125711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375977304	chr5:41125788-41125789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374793186	chr5:41125826-41125827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188211110	chr5:41125843-41125844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533806771	chr5:41125849-41125850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558095300	chr5:41125858-41125859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192157544	chr5:41125868-41125869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537699583	chr5:41125872-41125873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556034619	chr5:41125910-41125911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574614099	chr5:41125920-41125921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541641274	chr5:41125959-41125960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561458584	chr5:41125961-41125962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183187940	chr5:41125970-41125971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573225547	chr5:41125976-41125977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540643008	chr5:41125987-41125988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565235903	chr5:41126059-41126060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35611953	chr5:41126174-41126175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41116400-41128400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:41127600-41130600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:41127800-41128200	Enhancers	Brain Germinal Matrix	brain
4	chr5:41128000-41128400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:41128000-41128400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:41128000-41128600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:41128200-41128600	Enhancers	H9 Cell Line	embryonic stem cell

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