Variant report

Variant	esv2763451
Chromosome Location	chr5:44571144-44576171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577604250	chr5:44574605-44574606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543438676	chr5:44574612-44574613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563603605	chr5:44574656-44574657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555366031	chr5:44574679-44574680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374458842	chr5:44574694-44574695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573943038	chr5:44574735-44574736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11954650	chr5:44574743-44574744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541442702	chr5:44574758-44574759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375060498	chr5:44574798-44574799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549264458	chr5:44574815-44574816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151163004	chr5:44574828-44574829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11954674	chr5:44574831-44574832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11954676	chr5:44574838-44574839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555532468	chr5:44574861-44574862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140335755	chr5:44574864-44574865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183642650	chr5:44574886-44574887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11958780	chr5:44574957-44574958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146988535	chr5:44574958-44574959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72750292	chr5:44574965-44574966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4642379	chr5:44574988-44574989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs567655427	chr5:44574997-44574998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536566730	chr5:44575014-44575015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371848814	chr5:44575015-44575016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189260786	chr5:44575019-44575020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192792270	chr5:44575064-44575065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184848933	chr5:44575069-44575070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376970554	chr5:44575107-44575108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577790103	chr5:44575155-44575156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77539885	chr5:44575177-44575178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549689455	chr5:44575191-44575192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567627526	chr5:44575192-44575193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543478357	chr5:44575216-44575217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563288401	chr5:44575223-44575224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34577718	chr5:44575226-44575227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs74415715	chr5:44575234-44575235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142279052	chr5:44575391-44575392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528317560	chr5:44575394-44575395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577854301	chr5:44575418-44575419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565321346	chr5:44575456-44575457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146071923	chr5:44575457-44575458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138747792	chr5:44575481-44575482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376331430	chr5:44575512-44575513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111613133	chr5:44575555-44575556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563322199	chr5:44575572-44575573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73093953	chr5:44575584-44575585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539548123	chr5:44575585-44575586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567322442	chr5:44575591-44575592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529993754	chr5:44575611-44575612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547016873	chr5:44575648-44575649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74776155	chr5:44575649-44575650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
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
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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	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
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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44574600-44575200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:44574600-44575400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:44574800-44575200	Enhancers	Hela-S3	cervix
4	chr5:44574800-44575400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:44575000-44575400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:44575200-44579200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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