Variant report

Variant	nsv969991
Chromosome Location	chr5:29011907-29017334
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	chr5:28999555..29001892-chr5:29014306..29015830,2	K562	blood:

Variant related genes	Relation type
ENSG00000249226	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553735851	chr5:29014325-29014326	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144308237	chr5:29014344-29014345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180771143	chr5:29014364-29014365	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4866992	chr5:29014405-29014406	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11957386	chr5:29014413-29014414	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546326407	chr5:29014536-29014537	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79715260	chr5:29014541-29014542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528324925	chr5:29014542-29014543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557132561	chr5:29014551-29014552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74664791	chr5:29014563-29014564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563908304	chr5:29014584-29014585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568039202	chr5:29014588-29014589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148739840	chr5:29014613-29014614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186232125	chr5:29014645-29014646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552958255	chr5:29014648-29014649	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539057635	chr5:29014670-29014671	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557860274	chr5:29014721-29014722	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs16898510	chr5:29014738-29014739	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115802854	chr5:29014751-29014752	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553575578	chr5:29014757-29014758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374955242	chr5:29014802-29014803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575213191	chr5:29014809-29014810	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs190351145	chr5:29014826-29014827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557368392	chr5:29014865-29014866	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552271689	chr5:29014900-29014901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575624116	chr5:29014977-29014978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545863786	chr5:29015067-29015068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564621918	chr5:29015095-29015096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528538647	chr5:29015097-29015098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78158220	chr5:29015100-29015101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143621249	chr5:29015123-29015124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146309646	chr5:29015142-29015143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548215061	chr5:29015156-29015157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550506049	chr5:29015192-29015193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569032359	chr5:29015225-29015226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs16898518	chr5:29015241-29015242	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs77906606	chr5:29015262-29015263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77947498	chr5:29015273-29015274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533825174	chr5:29015321-29015322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549090871	chr5:29015335-29015336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568717812	chr5:29015405-29015406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571026352	chr5:29015406-29015407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557670691	chr5:29015455-29015456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536596470	chr5:29015482-29015483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182592666	chr5:29015498-29015499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561072493	chr5:29015507-29015508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573013280	chr5:29015537-29015538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540366008	chr5:29015539-29015540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531807054	chr5:29015564-29015565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573526885	chr5:29015589-29015590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
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
Chronic lymphocytic leukemia	21546498	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
Breast cancer	20409316	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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29016400-29016600	Enhancers	Pancreas	Pancrea
2	chr5:29016400-29017800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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