Variant report

Variant	nsv980993
Chromosome Location	chr5:106663803-106666958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111390210	chr5:106664404-106664405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551700396	chr5:106664449-106664450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571440164	chr5:106664475-106664476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374972883	chr5:106664476-106664477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536874941	chr5:106664483-106664484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556710991	chr5:106664494-106664495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576145047	chr5:106664506-106664507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535516712	chr5:106664536-106664537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187269117	chr5:106664581-106664582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143627883	chr5:106664591-106664592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80168897	chr5:106664602-106664603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17403761	chr5:106664634-106664635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192175031	chr5:106664650-106664651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148055070	chr5:106664659-106664660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563834852	chr5:106664806-106664807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182608908	chr5:106664868-106664869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188026343	chr5:106664872-106664873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549052174	chr5:106664916-106664917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559179483	chr5:106664921-106664922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140848757	chr5:106664925-106664926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190764019	chr5:106664931-106664932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571541676	chr5:106664970-106664971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185211	chr5:106664983-106664984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550372255	chr5:106664985-106664986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567078170	chr5:106665009-106665010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536038889	chr5:106665025-106665026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556829906	chr5:106665048-106665049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547380398	chr5:106665058-106665059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571878836	chr5:106665064-106665065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572434939	chr5:106665067-106665068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150131280	chr5:106665115-106665116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73777824	chr5:106665116-106665117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs578206048	chr5:106665171-106665172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138744755	chr5:106665234-106665235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112589330	chr5:106665271-106665272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574331519	chr5:106665289-106665290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554256865	chr5:106665295-106665296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543232767	chr5:106665333-106665334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559432489	chr5:106665359-106665360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77354248	chr5:106665361-106665362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551374326	chr5:106665398-106665399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10715041	chr5:106665471-106665472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566417955	chr5:106665479-106665480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576095766	chr5:106665502-106665503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539219025	chr5:106665511-106665512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564685609	chr5:106665517-106665518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530717551	chr5:106665527-106665528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373500504	chr5:106665593-106665594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs252677	chr5:106665664-106665665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567216288	chr5:106665667-106665668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106664400-106664800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:106664800-106667400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:106666600-106666800	Enhancers	Left Ventricle	heart
4	chr5:106666600-106667000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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