Variant report

Variant	esv3417101
Chromosome Location	chr3:164465458-164468656
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	chr3:164459036..164461308-chr3:164464916..164467586,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547904148	chr3:164465813-164465814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188623634	chr3:164465853-164465854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534152202	chr3:164465920-164465921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554219954	chr3:164465926-164465927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149962588	chr3:164465973-164465974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181149558	chr3:164465984-164465985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3070854	chr3:164465994-164465995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200781407	chr3:164465998-164465999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1874220	chr3:164466005-164466006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536942529	chr3:164466098-164466099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553120921	chr3:164466212-164466213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186188984	chr3:164466255-164466256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375033825	chr3:164466285-164466286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386667869	chr3:164466319-164466320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199575396	chr3:164466322-164466323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576564779	chr3:164466323-164466324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571851687	chr3:164466330-164466331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200663789	chr3:164466333-164466334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377367306	chr3:164466390-164466391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79694735	chr3:164466413-164466414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564957119	chr3:164466424-164466425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571817203	chr3:164466425-164466426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77032863	chr3:164466458-164466459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560540928	chr3:164466484-164466485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191627147	chr3:164466488-164466489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550031755	chr3:164466502-164466503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538706653	chr3:164466540-164466541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183914135	chr3:164466584-164466585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115107211	chr3:164466596-164466597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187341185	chr3:164466621-164466622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370775920	chr3:164466624-164466625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552103922	chr3:164466639-164466640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148681707	chr3:164466641-164466642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534293851	chr3:164466682-164466683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554903119	chr3:164466691-164466692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190955970	chr3:164466726-164466727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114130713	chr3:164466756-164466757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567655976	chr3:164466798-164466799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111960485	chr3:164466803-164466804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575694620	chr3:164466919-164466920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567880675	chr3:164466924-164466925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372807866	chr3:164466925-164466926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145366598	chr3:164466963-164466964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539181936	chr3:164467009-164467010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182122275	chr3:164467036-164467037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147655207	chr3:164467042-164467043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540713032	chr3:164467052-164467053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552976211	chr3:164467061-164467062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187146773	chr3:164467092-164467093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574071413	chr3:164467113-164467114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164465800-164466400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:164466400-164470400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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