Variant report

Variant	esv2301108
Chromosome Location	chr3:162764713-162769282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551744061	chr3:162764713-162764714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565105728	chr3:162764728-162764729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6548365	chr3:162764806-162764807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534291704	chr3:162764828-162764829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151108676	chr3:162764829-162764830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566694662	chr3:162764844-162764845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535623405	chr3:162764851-162764852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146179077	chr3:162764876-162764877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555407001	chr3:162764892-162764893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377474391	chr3:162764900-162764901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199785078	chr3:162764902-162764903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150589770	chr3:162764903-162764904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575484936	chr3:162764949-162764950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113038057	chr3:162765252-162765253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190587709	chr3:162765300-162765301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182184691	chr3:162765372-162765373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187156045	chr3:162765394-162765395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552032982	chr3:162765457-162765458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567034659	chr3:162765499-162765500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143120651	chr3:162765512-162765513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146666044	chr3:162765516-162765517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190030065	chr3:162765534-162765535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182966958	chr3:162765549-162765550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188244519	chr3:162765570-162765571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551742441	chr3:162765741-162765742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140286414	chr3:162765759-162765760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145386587	chr3:162765795-162765796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138024582	chr3:162766096-162766097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111799106	chr3:162766147-162766148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149078902	chr3:162766375-162766376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568026225	chr3:162766406-162766407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60074051	chr3:162766537-162766538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148262749	chr3:162766583-162766584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193263847	chr3:162766815-162766816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142896917	chr3:162767079-162767080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147244869	chr3:162767086-162767087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111440250	chr3:162767102-162767103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183651912	chr3:162767264-162767265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567571277	chr3:162767345-162767346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112417937	chr3:162767498-162767499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189045392	chr3:162767555-162767556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542900095	chr3:162767556-162767557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150858672	chr3:162767689-162767690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191585318	chr3:162767701-162767702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112147043	chr3:162767741-162767742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565416890	chr3:162767797-162767798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150026608	chr3:162767824-162767825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144341954	chr3:162767867-162767868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113156412	chr3:162767888-162767889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143947821	chr3:162767982-162767983	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162741000-162765600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:162764400-162765000	Enhancers	Dnd41	blood
3	chr3:162765000-162769000	Weak transcription	Dnd41	blood
4	chr3:162765600-162766000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:162769000-162770200	Enhancers	Dnd41	blood

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