Variant report

Variant	nsv968092
Chromosome Location	chr5:45843862-45845101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573780549	chr5:45844252-45844253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201380909	chr5:45844260-45844261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34054119	chr5:45844263-45844264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79196384	chr5:45844264-45844265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113294860	chr5:45844265-45844266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370691915	chr5:45844274-45844275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190156523	chr5:45844300-45844301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181271400	chr5:45844305-45844306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185813816	chr5:45844336-45844337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10066821	chr5:45844338-45844339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139526620	chr5:45844341-45844342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565569625	chr5:45844359-45844360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144208300	chr5:45844360-45844361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575889761	chr5:45844364-45844365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544899806	chr5:45844377-45844378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561279743	chr5:45844398-45844399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76883620	chr5:45844420-45844421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546672296	chr5:45844434-45844435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140181114	chr5:45844440-45844441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532368746	chr5:45844443-45844444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552326644	chr5:45844503-45844504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569241163	chr5:45844507-45844508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143932424	chr5:45844542-45844543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567317048	chr5:45844548-45844549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146843465	chr5:45844555-45844556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148984338	chr5:45844584-45844585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182347889	chr5:45844592-45844593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538628842	chr5:45844597-45844598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186340991	chr5:45844615-45844616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116090415	chr5:45844651-45844652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112606368	chr5:45844652-45844653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574668757	chr5:45844655-45844656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540471053	chr5:45844662-45844663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560203344	chr5:45844665-45844666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192304076	chr5:45844681-45844682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546279412	chr5:45844720-45844721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547204090	chr5:45844728-45844729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565792878	chr5:45844743-45844744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142098176	chr5:45844773-45844774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550587975	chr5:45844779-45844780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567595978	chr5:45844794-45844795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113587939	chr5:45844797-45844798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67120001	chr5:45844799-45844800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569989098	chr5:45844801-45844802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183252233	chr5:45844829-45844830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546860408	chr5:45844849-45844850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35109900	chr5:45844890-45844891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76917541	chr5:45844894-45844895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576423000	chr5:45844898-45844899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73094261	chr5:45844916-45844917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
Cancer	16751803	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
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45844200-45844800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:45844800-45847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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