Variant report

Variant	nsv597821
Chromosome Location	chr5:36456056-36460425
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:
2	chr5:36433442..36435493-chr5:36455039..36456735,2	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs66596843	chr5:36456056-36456057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557800215	chr5:36456062-36456063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567332442	chr5:36456132-36456133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577626895	chr5:36456169-36456170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183287734	chr5:36456214-36456215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140507740	chr5:36456221-36456222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552060496	chr5:36456240-36456241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141200010	chr5:36456288-36456289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10041205	chr5:36456298-36456299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188682478	chr5:36456306-36456307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2455275	chr5:36456308-36456309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191761648	chr5:36456325-36456326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10941295	chr5:36456388-36456389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78364319	chr5:36456446-36456447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79800890	chr5:36456454-36456455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182634569	chr5:36456459-36456460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187293898	chr5:36456511-36456512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191335443	chr5:36456512-36456513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536130205	chr5:36456642-36456643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549228364	chr5:36456668-36456669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569128506	chr5:36456674-36456675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10035704	chr5:36456703-36456704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10035706	chr5:36456712-36456713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577916672	chr5:36456721-36456722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538011082	chr5:36456739-36456740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117876343	chr5:36456745-36456746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540193951	chr5:36456749-36456750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72730760	chr5:36456823-36456824	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150754875	chr5:36456861-36456862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112581559	chr5:36456869-36456870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56989272	chr5:36456879-36456880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76079402	chr5:36456931-36456932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112825398	chr5:36456955-36456956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62356881	chr5:36456964-36456965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183871846	chr5:36457002-36457003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188637070	chr5:36457003-36457004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139015235	chr5:36457033-36457034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527358447	chr5:36457040-36457041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540701887	chr5:36457083-36457084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562877557	chr5:36457089-36457090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193262716	chr5:36457091-36457092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531524560	chr5:36457172-36457173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529627978	chr5:36457202-36457203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549267092	chr5:36457239-36457240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185742858	chr5:36457241-36457242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531834306	chr5:36457242-36457243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551541004	chr5:36457247-36457248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2455276	chr5:36457270-36457271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375668151	chr5:36457274-36457275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553948114	chr5:36457282-36457283	Weak transcription Enhancers	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36445800-36462800	Weak transcription	Esophagus	oesophagus
2	chr5:36450600-36456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:36451800-36457600	Weak transcription	HSMMtube	muscle
4	chr5:36452000-36457400	Weak transcription	Osteobl	bone
5	chr5:36452800-36456800	Weak transcription	HSMM	muscle
6	chr5:36453400-36459000	Weak transcription	Placenta	Placenta
7	chr5:36453800-36457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:36453800-36457400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:36455400-36456800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:36455400-36456800	Weak transcription	HMEC	breast
11	chr5:36455400-36457400	Weak transcription	NHEK	skin
12	chr5:36455600-36457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:36455600-36457600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:36456600-36457000	Weak transcription	Hela-S3	cervix
15	chr5:36456800-36457000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:36456800-36457000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:36456800-36459400	Enhancers	HSMM	muscle
18	chr5:36456800-36460600	Enhancers	HMEC	breast
19	chr5:36457000-36457400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:36457000-36457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:36457400-36457800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:36457400-36457800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:36457400-36458400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:36457400-36458400	Enhancers	Osteobl	bone
25	chr5:36457400-36459000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:36457400-36459400	Enhancers	Fetal Intestine Large	intestine
27	chr5:36457400-36459800	Enhancers	Hela-S3	cervix
28	chr5:36457400-36460400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr5:36457400-36460400	Enhancers	NHEK	skin
30	chr5:36457400-36461000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:36457600-36457800	Enhancers	Fetal Heart	heart
32	chr5:36457600-36458000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:36457600-36458200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:36457600-36458200	Enhancers	Fetal Intestine Small	intestine
35	chr5:36457600-36458200	Enhancers	Fetal Muscle Leg	muscle
36	chr5:36457600-36458200	Enhancers	NH-A	brain
37	chr5:36457600-36458400	Enhancers	HSMMtube	muscle
38	chr5:36457600-36458600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:36457600-36460400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:36457800-36462200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:36457800-36468000	Weak transcription	Fetal Heart	heart
42	chr5:36458000-36459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:36458200-36459200	Weak transcription	Fetal Intestine Small	intestine
44	chr5:36458200-36462600	Weak transcription	NH-A	brain
45	chr5:36458200-36462800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:36458400-36460000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:36458400-36462200	Weak transcription	Osteobl	bone
48	chr5:36458400-36462400	Weak transcription	HSMMtube	muscle
49	chr5:36458600-36459000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:36459000-36459200	Enhancers	Muscle Satellite Cultured Cells	--

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