Variant report

Variant	nsv968103
Chromosome Location	chr5:92702701-92707953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536076068	chr5:92707229-92707230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549062305	chr5:92707258-92707259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55870243	chr5:92707273-92707274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372010436	chr5:92707274-92707275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71941599	chr5:92707275-92707276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397748834	chr5:92707289-92707290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564167663	chr5:92707309-92707310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77233028	chr5:92707310-92707311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543380601	chr5:92707330-92707331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375800430	chr5:92707391-92707392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568941977	chr5:92707419-92707420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542013054	chr5:92707514-92707515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185729089	chr5:92707533-92707534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71639280	chr5:92707586-92707587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73131390	chr5:92707657-92707658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142016466	chr5:92707665-92707666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528865863	chr5:92707680-92707681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372205353	chr5:92707683-92707684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561692806	chr5:92707686-92707687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181647824	chr5:92707725-92707726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs269696	chr5:92707735-92707736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139672298	chr5:92707775-92707776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573474211	chr5:92707830-92707831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184664003	chr5:92707834-92707835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188986648	chr5:92707879-92707880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561809119	chr5:92707945-92707946	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92707200-92708200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:92707600-92708000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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