Variant report

Variant	nsv818348
Chromosome Location	chr5:41572722-41579718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 275 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs589757	chr5:41572722-41572723	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562165051	chr5:41572730-41572731	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541995907	chr5:41572859-41572860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541218530	chr5:41572860-41572861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150288733	chr5:41572911-41572912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75614352	chr5:41572912-41572913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551402738	chr5:41572932-41572933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569608484	chr5:41572962-41572963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143315125	chr5:41572974-41572975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191296892	chr5:41572996-41572997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548628703	chr5:41573016-41573017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183589386	chr5:41573017-41573018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534457171	chr5:41573019-41573020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551118532	chr5:41573020-41573021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547947253	chr5:41573021-41573022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545497794	chr5:41573031-41573032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116816911	chr5:41573047-41573048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72758374	chr5:41573057-41573058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75768238	chr5:41573070-41573071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144904827	chr5:41573071-41573072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537450048	chr5:41573102-41573103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13185010	chr5:41573104-41573105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188427821	chr5:41573120-41573121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574160770	chr5:41573126-41573127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73750198	chr5:41573127-41573128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559465479	chr5:41573155-41573156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75076458	chr5:41573163-41573164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545243984	chr5:41573205-41573206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563254001	chr5:41573225-41573226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530757607	chr5:41573238-41573239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76267655	chr5:41573275-41573276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192421085	chr5:41573287-41573288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528156457	chr5:41573313-41573314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144659647	chr5:41573341-41573342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553291912	chr5:41573354-41573355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566235329	chr5:41573396-41573397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs648014	chr5:41573418-41573419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113441081	chr5:41573433-41573434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114115387	chr5:41573448-41573449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577981815	chr5:41573461-41573462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377341096	chr5:41573474-41573475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs684130	chr5:41573480-41573481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138621361	chr5:41573505-41573506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116879233	chr5:41573545-41573546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36005067	chr5:41573574-41573575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548859320	chr5:41573579-41573580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563505176	chr5:41573602-41573603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537515238	chr5:41573609-41573610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577727911	chr5:41573637-41573638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558247701	chr5:41573647-41573648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41572400-41572800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:41572800-41573000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:41573000-41574200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:41574200-41575000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:41575000-41575400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:41575000-41576200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:41575000-41576200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:41575200-41576000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:41575200-41576000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:41575200-41576000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:41575200-41576000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:41575200-41576200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:41575200-41576400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:41575400-41576000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:41575400-41576000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:41575400-41576000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:41575400-41576200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:41575400-41576200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:41575400-41576400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:41576200-41577800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:41577800-41578400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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