Variant report

Variant	esv2763322
Chromosome Location	chr3:164076198-164087419
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	chr3:164072695..164075481-chr3:164078791..164081086,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-4	chr3:164078868-164078917	XLOC_002899

Extended variants
information (count: 239 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373408541	chr3:164078277-164078278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560724625	chr3:164078315-164078316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529575104	chr3:164078316-164078317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182936487	chr3:164078317-164078318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562151962	chr3:164078327-164078328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73157123	chr3:164078437-164078438	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187223109	chr3:164078469-164078470	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150052751	chr3:164078505-164078506	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs570804870	chr3:164078533-164078534	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs193097518	chr3:164078537-164078538	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145418961	chr3:164078554-164078555	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185665387	chr3:164078569-164078570	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149027547	chr3:164078571-164078572	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs73157124	chr3:164078581-164078582	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189328087	chr3:164078603-164078604	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192650462	chr3:164078648-164078649	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538291278	chr3:164078673-164078674	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs17492837	chr3:164078675-164078676	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374814310	chr3:164078705-164078706	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs550531432	chr3:164078734-164078735	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142079716	chr3:164078760-164078761	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs536477671	chr3:164078828-164078829	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183689385	chr3:164078829-164078830	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533482994	chr3:164078885-164078886	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs71156848	chr3:164078886-164078887	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs573852921	chr3:164078893-164078894	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs147795743	chr3:164078894-164078895	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs562890229	chr3:164078905-164078906	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs531872883	chr3:164078945-164078946	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544711374	chr3:164078977-164078978	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs367925316	chr3:164078988-164078989	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527416447	chr3:164079038-164079039	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs547434919	chr3:164079055-164079056	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11715582	chr3:164079114-164079115	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35348783	chr3:164079128-164079129	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188747770	chr3:164079160-164079161	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559160948	chr3:164079170-164079171	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369403072	chr3:164079183-164079184	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368768475	chr3:164081289-164081290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376016384	chr3:164081314-164081315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149374499	chr3:164081320-164081321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10575333	chr3:164081322-164081323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9847721	chr3:164081323-164081324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200307740	chr3:164081326-164081327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73157128	chr3:164081411-164081412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141999208	chr3:164081465-164081466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79374939	chr3:164081500-164081501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146336915	chr3:164081504-164081505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139664460	chr3:164081585-164081586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190140670	chr3:164081642-164081643	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Autism	19287141	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164078200-164078400	Enhancers	NHLF	lung
2	chr3:164078200-164078600	Enhancers	HepG2	liver
3	chr3:164078400-164079000	Active TSS	NHLF	lung
4	chr3:164078400-164079200	Enhancers	Dnd41	blood
5	chr3:164078600-164079200	Active TSS	HepG2	liver
6	chr3:164078800-164079200	Active TSS	Hela-S3	cervix
7	chr3:164081200-164084000	Enhancers	Fetal Heart	heart
8	chr3:164082000-164082400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:164082800-164083400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:164084000-164088600	Weak transcription	Fetal Heart	heart

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