Variant report

Variant	nsv881113
Chromosome Location	chr5:28069545-28134334
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	chr5:28078809..28081499-chr5:28083872..28086388,2	K562	blood:
2	chr5:28078809..28081499-chr5:28083872..28086388,2	K562	blood:

Extended variants
information (count: 473 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:473 , 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	rs553564506	chr5:28077827-28077828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs147987836	chr5:28077834-28077835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs141606271	chr5:28077838-28077839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562329115	chr5:28077876-28077877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs191248641	chr5:28077878-28077879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs6450594	chr5:28077879-28077880	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544287279	chr5:28077896-28077897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370829708	chr5:28077901-28077902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs533683404	chr5:28077907-28077908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs10050583	chr5:28077915-28077916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374242371	chr5:28077916-28077917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs560696844	chr5:28077926-28077927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114553172	chr5:28077927-28077928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs549100838	chr5:28077952-28077953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567146670	chr5:28077990-28077991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs537005241	chr5:28083009-28083010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556945993	chr5:28083039-28083040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs575898340	chr5:28083095-28083096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs573864350	chr5:28083099-28083100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34493213	chr5:28083108-28083109	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555960747	chr5:28083116-28083117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs142907162	chr5:28083139-28083140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs6895028	chr5:28083176-28083177	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs78139590	chr5:28083180-28083181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573236164	chr5:28083207-28083208	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs73747767	chr5:28083232-28083233	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562364894	chr5:28083233-28083234	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs147002477	chr5:28083269-28083270	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs541111090	chr5:28083274-28083275	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs551175372	chr5:28083293-28083294	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs35975216	chr5:28083308-28083309	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73747768	chr5:28083313-28083314	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185561026	chr5:28083335-28083336	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73747769	chr5:28083338-28083339	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375888575	chr5:28083396-28083397	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs34465854	chr5:28083400-28083401	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551548739	chr5:28083415-28083416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs138116035	chr5:28083416-28083417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs143586045	chr5:28083434-28083435	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs548720120	chr5:28083446-28083447	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567526095	chr5:28083463-28083464	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529813680	chr5:28083514-28083515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537775623	chr5:28083518-28083519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555921980	chr5:28083527-28083528	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs4867438	chr5:28083546-28083547	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12522355	chr5:28083550-28083551	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190649461	chr5:28083569-28083570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs180943915	chr5:28083579-28083580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs186998307	chr5:28083580-28083581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552631048	chr5:28083581-28083582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
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
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	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
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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28077800-28078000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:28083000-28084000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:28083200-28083400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:28083400-28084200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:28083600-28086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:28084200-28084400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:28084200-28084600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:28084400-28085800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:28086200-28087200	Active TSS	A549	lung
10	chr5:28086600-28086800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:28110800-28111200	Active TSS	A549	lung
12	chr5:28110800-28111400	Enhancers	Fetal Stomach	stomach
13	chr5:28110800-28111600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:28111600-28117200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:28117200-28118400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:28124400-28124800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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