Variant report

Variant	nsv966965
Chromosome Location	chr3:158947307-158950936
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	chr3:158949275..158950779-chr3:158953655..158955845,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76465824	chr3:158947325-158947326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544935617	chr3:158947342-158947343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75477505	chr3:158947344-158947345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376624502	chr3:158947364-158947365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578090939	chr3:158947411-158947412	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs545509351	chr3:158947412-158947413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs144049999	chr3:158947416-158947417	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182279697	chr3:158947440-158947441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575141157	chr3:158947465-158947466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542419171	chr3:158947471-158947472	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112124817	chr3:158947504-158947505	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112359138	chr3:158947508-158947509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112775374	chr3:158947522-158947523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561154121	chr3:158947524-158947525	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs531480827	chr3:158947527-158947528	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188041550	chr3:158947528-158947529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs536660752	chr3:158947535-158947536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201040591	chr3:158947542-158947543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190957473	chr3:158947543-158947544	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs183131496	chr3:158947550-158947551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111952574	chr3:158947564-158947565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113185904	chr3:158947573-158947574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529266055	chr3:158947605-158947606	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549695753	chr3:158947629-158947630	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371790090	chr3:158947659-158947660	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs188745985	chr3:158947660-158947661	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192832303	chr3:158947687-158947688	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs370712270	chr3:158947696-158947697	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184918675	chr3:158947701-158947702	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs187800337	chr3:158947739-158947740	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs372547780	chr3:158947764-158947765	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs13314849	chr3:158947792-158947793	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9823142	chr3:158948866-158948867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534728585	chr3:158948867-158948868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35967275	chr3:158948871-158948872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189461378	chr3:158948888-158948889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575831640	chr3:158948917-158948918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143386287	chr3:158948940-158948941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9823574	chr3:158948959-158948960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2244434	chr3:158948969-158948970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148387525	chr3:158948977-158948978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559064761	chr3:158949003-158949004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529727825	chr3:158949016-158949017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140549825	chr3:158949052-158949053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147076576	chr3:158949106-158949107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530631103	chr3:158949113-158949114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550362691	chr3:158949115-158949116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577219468	chr3:158949141-158949142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571889692	chr3:158949146-158949147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138485147	chr3:158949183-158949184	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158946800-158947400	Enhancers	Dnd41	blood
2	chr3:158947000-158947400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:158947000-158947400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:158947000-158947400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:158947400-158947600	Active TSS	HSMM	muscle
6	chr3:158947600-158947800	Flanking Active TSS	HSMM	muscle
7	chr3:158948800-158949200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:158949200-158952000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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