Variant report

Variant	esv2762515
Chromosome Location	chr5:36270305-36272663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36272403..36275223-chr5:36277459..36279344,2	K562	blood:
2	chr5:36210257..36211842-chr5:36269897..36271845,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191401226	chr5:36270307-36270308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570163227	chr5:36270310-36270311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532787163	chr5:36270337-36270338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147818904	chr5:36270383-36270384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566199415	chr5:36270401-36270402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534761137	chr5:36270455-36270456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141372240	chr5:36270464-36270465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568069307	chr5:36270513-36270514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536959941	chr5:36270651-36270652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71617748	chr5:36270684-36270685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565344527	chr5:36270698-36270699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374570436	chr5:36270709-36270710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146955119	chr5:36270727-36270728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577057695	chr5:36270737-36270738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539017158	chr5:36270743-36270744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554739906	chr5:36270762-36270763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537308569	chr5:36270781-36270782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572193536	chr5:36270816-36270817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552874299	chr5:36270818-36270819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572908970	chr5:36270849-36270850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141604579	chr5:36270857-36270858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576744290	chr5:36270865-36270866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150090453	chr5:36270867-36270868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6451270	chr5:36270874-36270875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs6886098	chr5:36270915-36270916	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs6886540	chr5:36270928-36270929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532679351	chr5:36270951-36270952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552755093	chr5:36270963-36270964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559664096	chr5:36271005-36271006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528568795	chr5:36271034-36271035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76723382	chr5:36271139-36271140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568208827	chr5:36271145-36271146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537098133	chr5:36271172-36271173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550675916	chr5:36271182-36271183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570755811	chr5:36271203-36271204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539317998	chr5:36271204-36271205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553153250	chr5:36271229-36271230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563441828	chr5:36271284-36271285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201322441	chr5:36271325-36271326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113710260	chr5:36271333-36271334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573027032	chr5:36271350-36271351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201701912	chr5:36271374-36271375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555540890	chr5:36271381-36271382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs137974479	chr5:36271418-36271419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573466216	chr5:36271444-36271445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370537260	chr5:36271451-36271452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575388250	chr5:36271473-36271474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200837339	chr5:36271492-36271493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575610494	chr5:36271493-36271494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398084064	chr5:36271500-36271501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
prenatal diagnosis	22389664	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
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
Non-small cell lung cancer	19010865	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
Prostate cancer	18632612	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36251800-36274400	Weak transcription	Brain Anterior Caudate	brain
2	chr5:36254000-36274400	Weak transcription	Aorta	Aorta
3	chr5:36261600-36277000	Weak transcription	Pancreas	Pancrea
4	chr5:36262800-36283800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:36266600-36274400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:36268400-36271200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:36269200-36271400	Enhancers	Fetal Lung	lung
8	chr5:36269600-36279600	Weak transcription	Brain Angular Gyrus	brain
9	chr5:36269800-36275400	Enhancers	Liver	Liver
10	chr5:36270200-36271400	Enhancers	Adipose Nuclei	Adipose
11	chr5:36270800-36271000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:36270800-36271400	Enhancers	Fetal Heart	heart
13	chr5:36271000-36271200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:36271000-36272600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:36271200-36272800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:36271200-36276800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:36271400-36272400	Weak transcription	Fetal Lung	lung
18	chr5:36271400-36273400	Weak transcription	Adipose Nuclei	Adipose
19	chr5:36272400-36272600	Enhancers	Brain Substantia Nigra	brain
20	chr5:36272400-36272600	Enhancers	Fetal Lung	lung
21	chr5:36272600-36273000	Weak transcription	Fetal Lung	lung
22	chr5:36272600-36274000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:36272600-36281800	Weak transcription	Brain Substantia Nigra	brain

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