Variant report

Variant	nsv432743
Chromosome Location	chr5:36460043-36463043
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	chr5:36457469..36459383-chr5:36460695..36462337,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529063487	chr5:36460043-36460044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546246877	chr5:36460064-36460065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2468517	chr5:36460075-36460076	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192483861	chr5:36460106-36460107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7730299	chr5:36460107-36460108	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs549512302	chr5:36460122-36460123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568005308	chr5:36460133-36460134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2455278	chr5:36460146-36460147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149305783	chr5:36460159-36460160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144561114	chr5:36460201-36460202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2455279	chr5:36460209-36460210	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs553004207	chr5:36460223-36460224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551530720	chr5:36460243-36460244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115466112	chr5:36460252-36460253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2468518	chr5:36460258-36460259	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534158764	chr5:36460296-36460297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185627203	chr5:36460317-36460318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554036647	chr5:36460422-36460423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113171387	chr5:36460423-36460424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113484057	chr5:36460424-36460425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2455280	chr5:36460425-36460426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs62356905	chr5:36460444-36460445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577342196	chr5:36460453-36460454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17358533	chr5:36460462-36460463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs202179048	chr5:36460481-36460482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188892238	chr5:36460482-36460483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367832474	chr5:36460483-36460484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148420216	chr5:36460558-36460559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561673938	chr5:36460601-36460602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191976727	chr5:36460619-36460620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184396322	chr5:36460651-36460652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188395534	chr5:36460699-36460700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570333874	chr5:36460837-36460838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533098699	chr5:36460852-36460853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141687771	chr5:36460874-36460875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74760372	chr5:36460888-36460889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77484564	chr5:36460890-36460891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75765960	chr5:36460893-36460894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78737100	chr5:36460894-36460895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563831416	chr5:36460927-36460928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71604831	chr5:36460949-36460950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558485276	chr5:36460992-36460993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576450450	chr5:36460993-36460994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566549920	chr5:36461033-36461034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535150308	chr5:36461176-36461177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548986520	chr5:36461199-36461200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568837746	chr5:36461205-36461206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145924664	chr5:36461213-36461214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535092081	chr5:36461254-36461255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58373595	chr5:36461277-36461278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36445800-36462800	Weak transcription	Esophagus	oesophagus
2	chr5:36456800-36460600	Enhancers	HMEC	breast
3	chr5:36457400-36460400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:36457400-36460400	Enhancers	NHEK	skin
5	chr5:36457400-36461000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:36457600-36460400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:36457800-36462200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:36457800-36468000	Weak transcription	Fetal Heart	heart
9	chr5:36458200-36462600	Weak transcription	NH-A	brain
10	chr5:36458200-36462800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:36458400-36462200	Weak transcription	Osteobl	bone
12	chr5:36458400-36462400	Weak transcription	HSMMtube	muscle
13	chr5:36459000-36460400	Enhancers	Placenta	Placenta
14	chr5:36459000-36460800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:36459200-36462200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:36459400-36462200	Weak transcription	HSMM	muscle
17	chr5:36459800-36460600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:36459800-36462200	Weak transcription	Hela-S3	cervix
19	chr5:36460000-36460400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:36460200-36460400	Enhancers	NHLF	lung
21	chr5:36460400-36462000	Weak transcription	NHEK	skin
22	chr5:36460400-36462400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:36460400-36462400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:36460400-36462600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:36460600-36461800	Weak transcription	HMEC	breast
26	chr5:36460600-36462000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:36460800-36462000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:36461000-36462000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:36461800-36464200	Enhancers	HMEC	breast
30	chr5:36462000-36464000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:36462000-36464000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:36462000-36464200	Enhancers	NHEK	skin
33	chr5:36462000-36464400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:36462200-36463000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:36462200-36463200	Enhancers	Hela-S3	cervix
36	chr5:36462200-36463200	Enhancers	Osteobl	bone
37	chr5:36462200-36463400	Enhancers	HSMM	muscle
38	chr5:36462200-36463800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:36462400-36462800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:36462400-36462800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:36462400-36463000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:36462400-36463000	Enhancers	Thymus	Thymus
43	chr5:36462400-36463200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:36462400-36463200	Enhancers	HSMMtube	muscle
45	chr5:36462400-36463400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:36462600-36463000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:36462600-36463000	Enhancers	NH-A	brain
48	chr5:36462600-36463200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:36462800-36463200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:36462800-36463200	Enhancers	Esophagus	oesophagus

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