Variant report

Variant	nsv1016265
Chromosome Location	chr5:104315431-104336198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-7	chr5:104315392-104315477	ENSG00000253584

Extended variants
information (count: 185 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529541600	chr5:104315435-104315436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs80108303	chr5:104321210-104321211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373961415	chr5:104321233-104321234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571374077	chr5:104321243-104321244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75890009	chr5:104321245-104321246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186352314	chr5:104321259-104321260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544601978	chr5:104321278-104321279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549520087	chr5:104321309-104321310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569739609	chr5:104321334-104321335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556942936	chr5:104321336-104321337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535787563	chr5:104321400-104321401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3993310	chr5:104322016-104322017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138139649	chr5:104322032-104322033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560522900	chr5:104322068-104322069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538989569	chr5:104322076-104322077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558999490	chr5:104322096-104322097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368884191	chr5:104322100-104322101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557163977	chr5:104322117-104322118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371559648	chr5:104322175-104322176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373298039	chr5:104322241-104322242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77272076	chr5:104322249-104322250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556761595	chr5:104322263-104322264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143521616	chr5:104322269-104322270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376753686	chr5:104322302-104322303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542820239	chr5:104322303-104322304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113874602	chr5:104322329-104322330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553651576	chr5:104322332-104322333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573155815	chr5:104322336-104322337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545012585	chr5:104322342-104322343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572654183	chr5:104322346-104322347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2964705	chr5:104322379-104322380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183359764	chr5:104322418-104322419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544726020	chr5:104322431-104322432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10477841	chr5:104322481-104322482	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186544719	chr5:104322529-104322530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145903254	chr5:104322548-104322549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565987996	chr5:104322558-104322559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528438613	chr5:104322563-104322564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112040542	chr5:104322588-104322589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138358621	chr5:104322596-104322597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533087157	chr5:104322600-104322601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149245374	chr5:104322607-104322608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567592434	chr5:104322627-104322628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536626770	chr5:104322647-104322648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551606476	chr5:104322650-104322651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191320763	chr5:104322670-104322671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567223909	chr5:104322740-104322741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144823390	chr5:104322747-104322748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184701523	chr5:104322788-104322789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189567126	chr5:104322880-104322881	Enhancers	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
Myelofibrosis	22110671	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
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104321200-104321400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:104322000-104322200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:104322000-104323400	Enhancers	Fetal Intestine Small	intestine
4	chr5:104322000-104323600	Enhancers	Fetal Intestine Large	intestine
5	chr5:104322600-104324600	Enhancers	K562	blood
6	chr5:104324800-104326000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:104325200-104326400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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