Variant report

Variant	esv3368362
Chromosome Location	chr5:29544095-29548293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs78610158	chr5:29544098-29544099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371124958	chr5:29544130-29544131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532755620	chr5:29544140-29544141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551364186	chr5:29544288-29544289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117426006	chr5:29544294-29544295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535378527	chr5:29544314-29544315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72751448	chr5:29544319-29544320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573761566	chr5:29544330-29544331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556633419	chr5:29544332-29544333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111353759	chr5:29544364-29544365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs649343	chr5:29544412-29544413	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191343438	chr5:29544438-29544439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183524734	chr5:29544463-29544464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141173256	chr5:29544479-29544480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79780354	chr5:29544515-29544516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187762412	chr5:29544516-29544517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547005470	chr5:29544569-29544570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs687233	chr5:29544575-29544576	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561843450	chr5:29544576-29544577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367608323	chr5:29544602-29544603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192254886	chr5:29544687-29544688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544432134	chr5:29544700-29544701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs687686	chr5:29544701-29544702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs647922	chr5:29544747-29544748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115139216	chr5:29544918-29544919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560136757	chr5:29544940-29544941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10670544	chr5:29544944-29544945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs33931491	chr5:29544945-29544946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386403414	chr5:29544946-29544947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3029089	chr5:29544947-29544948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528767911	chr5:29545068-29545069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62354953	chr5:29545072-29545073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs568436409	chr5:29545152-29545153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529412919	chr5:29545158-29545159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184524	chr5:29545166-29545167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs569208661	chr5:29545171-29545172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539962183	chr5:29545236-29545237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs582383	chr5:29545250-29545251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76538843	chr5:29545277-29545278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150300314	chr5:29545306-29545307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368673992	chr5:29545325-29545326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116268083	chr5:29545330-29545331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550776227	chr5:29545361-29545362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570523631	chr5:29545370-29545371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539565858	chr5:29545441-29545442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544373383	chr5:29545444-29545445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556442548	chr5:29545495-29545496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577656872	chr5:29545538-29545539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545125452	chr5:29545549-29545550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184993486	chr5:29545551-29545552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
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
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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	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	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29543200-29545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:29543400-29547400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:29543600-29544600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:29544000-29544400	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:29544400-29547600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:29544600-29548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:29545200-29546400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:29546400-29548800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:29547400-29548000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:29547600-29548400	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:29548000-29548600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:29548200-29550000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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