Variant report

Variant	nsv969283
Chromosome Location	chr5:88543694-88547168
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	chr5:88541257..88543050-chr5:88543066..88545965,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116985738	chr5:88545802-88545803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541375085	chr5:88545809-88545810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530426508	chr5:88545813-88545814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370759264	chr5:88545874-88545875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550507322	chr5:88545926-88545927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375410874	chr5:88545936-88545937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181824950	chr5:88546012-88546013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533091768	chr5:88546032-88546033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535440681	chr5:88546061-88546062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546705627	chr5:88546149-88546150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566690697	chr5:88546174-88546175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535612358	chr5:88546201-88546202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150826492	chr5:88546240-88546241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569094843	chr5:88546259-88546260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555325148	chr5:88546271-88546272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139306108	chr5:88546317-88546318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183925579	chr5:88546324-88546325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577592846	chr5:88546415-88546416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541664709	chr5:88546421-88546422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534060577	chr5:88546434-88546435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188214550	chr5:88546448-88546449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574173194	chr5:88546466-88546467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566010965	chr5:88546486-88546487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145481334	chr5:88546498-88546499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147715928	chr5:88546501-88546502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142504742	chr5:88546519-88546520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545709830	chr5:88546571-88546572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564107202	chr5:88546651-88546652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532924618	chr5:88546654-88546655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546741754	chr5:88546666-88546667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560244074	chr5:88546670-88546671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529088062	chr5:88546677-88546678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181465970	chr5:88546704-88546705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568954699	chr5:88546729-88546730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538167879	chr5:88546737-88546738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564437682	chr5:88546742-88546743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186498217	chr5:88546749-88546750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534503934	chr5:88546794-88546795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144846246	chr5:88546822-88546823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533903973	chr5:88546857-88546858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72773891	chr5:88546878-88546879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532020968	chr5:88546886-88546887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76256330	chr5:88546896-88546897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57517613	chr5:88546918-88546919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs58853211	chr5:88546931-88546932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145842238	chr5:88546968-88546969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545734228	chr5:88547026-88547027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191019604	chr5:88547028-88547029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569661357	chr5:88547058-88547059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577717582	chr5:88547063-88547064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
small cell lung cancer	20016488	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
Ovarian cancer	21720365	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
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	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
Late-onset gain of skills and peculiar jugular pit	20729728	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88545800-88546000	Weak transcription	Psoas Muscle	Psoas
2	chr5:88546000-88546200	Enhancers	Psoas Muscle	Psoas
3	chr5:88546200-88551400	Weak transcription	Psoas Muscle	Psoas

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