Variant report

Variant	esv3332886
Chromosome Location	chr5:45278195-45281193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367667459	chr5:45278208-45278209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187441599	chr5:45278209-45278210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371843814	chr5:45278223-45278224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1501363	chr5:45278253-45278254	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368152721	chr5:45278278-45278279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138963034	chr5:45278321-45278322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555478300	chr5:45278329-45278330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141339144	chr5:45278353-45278354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552835339	chr5:45278451-45278452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570908361	chr5:45278469-45278470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541180979	chr5:45278478-45278479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549205429	chr5:45278500-45278501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538275682	chr5:45278564-45278565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34497944	chr5:45278585-45278586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72759956	chr5:45278652-45278653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs578129514	chr5:45278691-45278692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112850970	chr5:45278728-45278729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562666933	chr5:45278758-45278759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575186309	chr5:45278771-45278772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139255478	chr5:45278785-45278786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191937139	chr5:45278853-45278854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368602775	chr5:45278892-45278893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149552344	chr5:45278924-45278925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146096900	chr5:45278960-45278961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570245856	chr5:45279006-45279007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184813160	chr5:45279013-45279014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188683518	chr5:45279014-45279015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34406589	chr5:45279120-45279121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550008470	chr5:45279137-45279138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569865256	chr5:45279181-45279182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369643231	chr5:45279209-45279210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536011516	chr5:45279216-45279217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535752240	chr5:45279239-45279240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555989154	chr5:45279240-45279241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192805379	chr5:45279247-45279248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140063066	chr5:45279252-45279253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143831232	chr5:45279276-45279277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1032738	chr5:45279278-45279279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543932617	chr5:45279294-45279295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543610079	chr5:45279370-45279371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576264020	chr5:45279450-45279451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541775077	chr5:45279465-45279466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111494482	chr5:45279477-45279478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372674971	chr5:45279478-45279479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375925790	chr5:45279490-45279491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527575573	chr5:45279546-45279547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142975135	chr5:45279574-45279575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540253269	chr5:45279608-45279609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151104782	chr5:45279650-45279651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113103933	chr5:45279658-45279659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
Breast cancer	21364760	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45277400-45280400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:45277800-45278200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:45277800-45278200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:45277800-45279800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:45277800-45279800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:45278000-45279000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:45278000-45279800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:45278200-45278400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:45278200-45278400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:45278200-45279600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:45278400-45280400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:45278400-45280600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:45279000-45279600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:45279000-45279600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:45279800-45280400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:45280000-45280600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:45280200-45280400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:45280400-45280800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:45280400-45281400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr5:45280400-45281400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr5:45280600-45280800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr5:45280600-45280800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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