Variant report

Variant	nsv523866
Chromosome Location	chr5:104969958-104992914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542889048	chr5:104974010-104974011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530726939	chr5:104974211-104974212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556451937	chr5:104974214-104974215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376356827	chr5:104974262-104974263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559662918	chr5:104974305-104974306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184609544	chr5:104974308-104974309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552124442	chr5:104974312-104974313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565349454	chr5:104974353-104974354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs55661616	chr5:104974411-104974412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570716225	chr5:104974428-104974429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189170716	chr5:104974429-104974430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141114250	chr5:104974461-104974462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs36038453	chr5:104974499-104974500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs368071411	chr5:104974532-104974533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561042246	chr5:104974585-104974586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182046196	chr5:104974587-104974588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542047965	chr5:104974678-104974679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566024092	chr5:104974680-104974681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577157153	chr5:104974684-104974685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534615871	chr5:104974710-104974711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557892982	chr5:104974711-104974712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544487652	chr5:104974725-104974726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141912848	chr5:104974726-104974727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149821321	chr5:104974762-104974763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145836801	chr5:104974780-104974781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141598505	chr5:104974858-104974859	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs147063952	chr5:104974866-104974867	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187654123	chr5:104974924-104974925	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs552554543	chr5:104974949-104974950	Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573444898	chr5:104975004-104975005	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545395968	chr5:104975009-104975010	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138258027	chr5:104975170-104975171	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568048150	chr5:104975218-104975219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531040827	chr5:104975292-104975293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544703843	chr5:104975306-104975307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535133979	chr5:104975324-104975325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561409169	chr5:104975337-104975338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35748824	chr5:104975340-104975341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113387230	chr5:104975367-104975368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546968615	chr5:104975385-104975386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566761213	chr5:104975389-104975390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528353482	chr5:104975454-104975455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551404952	chr5:104975458-104975459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142352572	chr5:104975462-104975463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536877243	chr5:104975468-104975469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190778525	chr5:104975537-104975538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566978012	chr5:104975550-104975551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535954512	chr5:104975585-104975586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552519847	chr5:104975631-104975632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143251895	chr5:104975636-104975637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104974000-104974400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:104974000-104974600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:104974000-104974600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:104974000-104975200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:104974000-104975400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:104974200-104975000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:104974800-104975000	ZNF genes & repeats	Pancreas	Pancrea
8	chr5:104974800-104975200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:104974800-104975200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:104974800-104975200	Enhancers	Placenta	Placenta
11	chr5:104975200-104977200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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