Variant report

Variant	nsv980115
Chromosome Location	chr3:163099663-163103845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163098893..163101155-chr3:163335067..163337245,2	K562	blood:
2	chr3:163099881..163101461-chr3:163102597..163105467,2	K562	blood:
3	chr3:163090274..163091850-chr3:163098856..163100455,2	K562	blood:
4	chr3:163093927..163096694-chr3:163097446..163100303,3	K562	blood:
5	chr3:163099881..163101461-chr3:163102597..163105467,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535060910	chr3:163101600-163101601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187924855	chr3:163101627-163101628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544312847	chr3:163101633-163101634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538195851	chr3:163101635-163101636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73023315	chr3:163101658-163101659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192208397	chr3:163101662-163101663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540828853	chr3:163101663-163101664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs725503	chr3:163101764-163101765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553950077	chr3:163101768-163101769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184889905	chr3:163101775-163101776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569256586	chr3:163101788-163101789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542642629	chr3:163101790-163101791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562900203	chr3:163101844-163101845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557595613	chr3:163101864-163101865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74439446	chr3:163101873-163101874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544559017	chr3:163101893-163101894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4130481	chr3:163101922-163101923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188379322	chr3:163101958-163101959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62293474	chr3:163101967-163101968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374386128	chr3:163102022-163102023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191632924	chr3:163102034-163102035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138583256	chr3:163102082-163102083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566411040	chr3:163102102-163102103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13087847	chr3:163102169-163102170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529017831	chr3:163102177-163102178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs956069	chr3:163102185-163102186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376084405	chr3:163102237-163102238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548546411	chr3:163102238-163102239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149310017	chr3:163102247-163102248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7610263	chr3:163102322-163102323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575858768	chr3:163102324-163102325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557986822	chr3:163102351-163102352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571909088	chr3:163102355-163102356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534100911	chr3:163102394-163102395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554381001	chr3:163102395-163102396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574031656	chr3:163102449-163102450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536801879	chr3:163102451-163102452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147425119	chr3:163102460-163102461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576465714	chr3:163102524-163102525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113650726	chr3:163102575-163102576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370801796	chr3:163102668-163102669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138225594	chr3:163102681-163102682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564345640	chr3:163102719-163102720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577883919	chr3:163102739-163102740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540038051	chr3:163102753-163102754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560322691	chr3:163102758-163102759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542969557	chr3:163102774-163102775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528975492	chr3:163102775-163102776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79338828	chr3:163102794-163102795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13071919	chr3:163103439-163103440	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163101600-163102800	Enhancers	Dnd41	blood
2	chr3:163103400-163104200	Active TSS	K562	blood

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