Variant report

Variant	esv2472496
Chromosome Location	chr3:162763966-162769289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529543328	chr3:162763992-162763993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140986742	chr3:162764003-162764004	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149648090	chr3:162764005-162764006	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549222355	chr3:162764056-162764057	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569175512	chr3:162764081-162764082	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs538212939	chr3:162764183-162764184	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558000573	chr3:162764256-162764257	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4858916	chr3:162764257-162764258	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150361509	chr3:162764275-162764276	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115513907	chr3:162764329-162764330	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs553202117	chr3:162764364-162764365	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142963599	chr3:162764365-162764366	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542154832	chr3:162764391-162764392	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs6548363	chr3:162764404-162764405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9881571	chr3:162764442-162764443	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6548364	chr3:162764459-162764460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs117622738	chr3:162764467-162764468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201919751	chr3:162764572-162764573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533041467	chr3:162764575-162764576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181961988	chr3:162764593-162764594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6419708	chr3:162764633-162764634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529410653	chr3:162764637-162764638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549291566	chr3:162764640-162764641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563175865	chr3:162764648-162764649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531644606	chr3:162764692-162764693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551744061	chr3:162764713-162764714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565105728	chr3:162764728-162764729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6548365	chr3:162764806-162764807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534291704	chr3:162764828-162764829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151108676	chr3:162764829-162764830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566694662	chr3:162764844-162764845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535623405	chr3:162764851-162764852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146179077	chr3:162764876-162764877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555407001	chr3:162764892-162764893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377474391	chr3:162764900-162764901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199785078	chr3:162764902-162764903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150589770	chr3:162764903-162764904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575484936	chr3:162764949-162764950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113038057	chr3:162765252-162765253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190587709	chr3:162765300-162765301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182184691	chr3:162765372-162765373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187156045	chr3:162765394-162765395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552032982	chr3:162765457-162765458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567034659	chr3:162765499-162765500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143120651	chr3:162765512-162765513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146666044	chr3:162765516-162765517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190030065	chr3:162765534-162765535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182966958	chr3:162765549-162765550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188244519	chr3:162765570-162765571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551742441	chr3:162765741-162765742	Enhancers 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:7 , 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	chr3:162762600-162764000	Enhancers	Dnd41	blood
3	chr3:162764000-162764400	Flanking Active TSS	Dnd41	blood
4	chr3:162764400-162765000	Enhancers	Dnd41	blood
5	chr3:162765000-162769000	Weak transcription	Dnd41	blood
6	chr3:162765600-162766000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:162769000-162770200	Enhancers	Dnd41	blood

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