Variant report

Variant	nsv1020388
Chromosome Location	chr5:52607736-52637122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:52613796..52614982-chr5:52726194..52727066,5	MCF-7	breast:
2	chr5:52615325..52617809-chr5:52621460..52624142,2	MCF-7	breast:
3	chr5:52622570..52624504-chr5:52626467..52629222,3	K562	blood:
4	chr5:52606282..52608166-chr5:52613076..52614692,2	K562	blood:
5	chr5:52557875..52558873-chr5:52630604..52631511,3	MCF-7	breast:
6	chr5:52606046..52608166-chr5:52612685..52614692,2	K562	blood:
7	chr5:52587769..52588413-chr5:52630443..52631429,2	MCF-7	breast:
8	chr5:52466281..52467009-chr5:52630628..52631369,2	MCF-7	breast:
9	chr5:52629610..52631270-chr5:52660976..52663491,2	MCF-7	breast:
10	chr5:52615325..52617809-chr5:52621460..52624142,2	MCF-7	breast:
11	chr5:52606282..52608166-chr5:52613076..52614692,2	K562	blood:
12	chr5:52615926..52618637-chr5:52626819..52629384,2	MCF-7	breast:
13	chr5:52615926..52618637-chr5:52626819..52629384,2	MCF-7	breast:
14	chr5:52634537..52635379-chr5:52772608..52773561,2	MCF-7	breast:
15	chr5:52619745..52620444-chr5:52772653..52773364,2	MCF-7	breast:
16	chr5:52606046..52608166-chr5:52612685..52614692,2	K562	blood:
17	chr5:52622570..52624504-chr5:52626467..52629222,3	K562	blood:

No data

Extended variants
information (count: 1050 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1050 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78419191	chr5:52607738-52607739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550142084	chr5:52607750-52607751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185666795	chr5:52607764-52607765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539319180	chr5:52607836-52607837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575364038	chr5:52607838-52607839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140973887	chr5:52607840-52607841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566244171	chr5:52607864-52607865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536344492	chr5:52607932-52607933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536847737	chr5:52607953-52607954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs252035	chr5:52607960-52607961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573670133	chr5:52607992-52607993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79042454	chr5:52608024-52608025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556101731	chr5:52608033-52608034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577587718	chr5:52608077-52608078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544867856	chr5:52608106-52608107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560023823	chr5:52608118-52608119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369292931	chr5:52608131-52608132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527435531	chr5:52608138-52608139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190415680	chr5:52608142-52608143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117811712	chr5:52608151-52608152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150083342	chr5:52608156-52608157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531820028	chr5:52608254-52608255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550036402	chr5:52608265-52608266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571590479	chr5:52608304-52608305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138726007	chr5:52608366-52608367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548069096	chr5:52608388-52608389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141356986	chr5:52608413-52608414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375998784	chr5:52608477-52608478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536985374	chr5:52608519-52608520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150386942	chr5:52608539-52608540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570181387	chr5:52608544-52608545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs137902460	chr5:52608588-52608589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149464455	chr5:52608639-52608640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6887269	chr5:52608658-52608659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577523138	chr5:52608676-52608677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544606346	chr5:52608679-52608680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147161631	chr5:52608760-52608761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553396939	chr5:52608792-52608793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386687996	chr5:52608802-52608803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6883267	chr5:52608804-52608805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561117506	chr5:52608832-52608833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576181721	chr5:52608857-52608858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200528026	chr5:52608874-52608875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543864926	chr5:52608894-52608895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368361904	chr5:52608907-52608908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183008355	chr5:52608915-52608916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532502979	chr5:52608918-52608919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140416314	chr5:52609016-52609017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559818668	chr5:52609017-52609018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530394151	chr5:52609095-52609096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52599800-52609600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:52600200-52611800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:52602000-52609400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:52608400-52609000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:52608600-52609200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:52608600-52609800	Enhancers	NHDF-Ad	bronchial
7	chr5:52609200-52609800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:52609400-52611800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:52609600-52610000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:52610000-52613800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:52611600-52613400	ZNF genes & repeats	NHEK	skin
12	chr5:52611800-52612200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:52611800-52613200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:52612200-52613200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:52613200-52614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:52613200-52614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:52613400-52614200	Weak transcription	NHEK	skin
18	chr5:52613600-52622400	Weak transcription	Aorta	Aorta
19	chr5:52613800-52614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:52614200-52615000	Enhancers	NHEK	skin
21	chr5:52614200-52623400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:52614200-52624400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:52614200-52624400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:52614200-52624400	Enhancers	HMEC	breast
25	chr5:52614400-52615200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:52615000-52615200	Flanking Active TSS	NHEK	skin
27	chr5:52615200-52615400	Enhancers	NHEK	skin
28	chr5:52615200-52615600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:52615400-52615600	Flanking Active TSS	NHEK	skin
30	chr5:52615600-52616200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:52615600-52616800	Enhancers	NHEK	skin
32	chr5:52616000-52624200	Enhancers	NHDF-Ad	bronchial
33	chr5:52616200-52618200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:52616200-52620400	Enhancers	HSMM	muscle
35	chr5:52616200-52622000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:52616800-52617200	Flanking Active TSS	NHEK	skin
37	chr5:52616800-52618600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:52616800-52620400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:52617000-52617400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:52617000-52617400	Enhancers	HSMMtube	muscle
41	chr5:52617000-52618600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:52617000-52618600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:52617200-52618400	Enhancers	NHEK	skin
44	chr5:52617200-52618400	Enhancers	Osteobl	bone
45	chr5:52617200-52620800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:52617400-52617800	Weak transcription	HSMMtube	muscle
47	chr5:52617400-52619400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:52617800-52618000	Enhancers	HSMMtube	muscle
49	chr5:52618000-52619400	Weak transcription	HSMMtube	muscle
50	chr5:52618200-52623000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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