Variant report

Variant	esv1846697
Chromosome Location	chr5:29459652-29485091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 459 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs685645	chr5:29459652-29459653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs57033137	chr5:29459680-29459681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375933379	chr5:29459694-29459695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368625894	chr5:29459697-29459698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373857020	chr5:29459698-29459699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386403409	chr5:29459700-29459701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56983294	chr5:29459701-29459702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564766356	chr5:29459734-29459735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59992712	chr5:29459768-29459769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551789717	chr5:29459776-29459777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567025490	chr5:29459838-29459839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573997073	chr5:29459863-29459864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185840852	chr5:29459933-29459934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191055869	chr5:29459965-29459966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182947731	chr5:29460006-29460007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371844250	chr5:29460039-29460040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs589854	chr5:29460048-29460049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571562815	chr5:29460049-29460050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538882537	chr5:29460085-29460086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77750282	chr5:29460130-29460131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553805759	chr5:29460168-29460169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572174180	chr5:29460189-29460190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542389593	chr5:29460191-29460192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544041017	chr5:29460198-29460199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185769055	chr5:29460210-29460211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192331188	chr5:29460213-29460214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1665494	chr5:29460222-29460223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183430541	chr5:29460228-29460229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139725690	chr5:29460282-29460283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200019149	chr5:29460359-29460360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140790845	chr5:29460368-29460369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9292326	chr5:29460382-29460383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187750345	chr5:29460404-29460405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545646974	chr5:29460407-29460408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560607146	chr5:29460417-29460418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146668688	chr5:29460447-29460448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549596893	chr5:29460494-29460495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567900100	chr5:29460503-29460504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548976502	chr5:29460515-29460516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531799119	chr5:29460524-29460525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72749369	chr5:29460527-29460528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36062225	chr5:29460528-29460529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571592169	chr5:29460555-29460556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61503356	chr5:29460586-29460587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373250189	chr5:29460795-29460796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139046310	chr5:29460797-29460798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536180815	chr5:29460804-29460805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550283272	chr5:29460811-29460812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554300447	chr5:29460836-29460837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575833388	chr5:29460868-29460869	Weak transcription	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29456800-29461400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:29461200-29461600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:29461200-29461600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr5:29461400-29461800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:29461600-29462800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:29461800-29467000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:29462400-29463000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr5:29462800-29463000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:29463000-29464000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:29464000-29464200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:29466200-29468200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:29471400-29471800	Enhancers	Hela-S3	cervix
13	chr5:29471400-29472000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:29471600-29472000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:29471600-29472000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:29471600-29472000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:29475800-29476200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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