Variant report

Variant	nsv965129
Chromosome Location	chr3:162769084-162776730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162776529..162777484-chr3:163340191..163340771,2	MCF-7	breast:
2	chr3:162774576..162775267-chr3:162991199..162992106,3	MCF-7	breast:
3	chr3:162774415..162775478-chr3:163207241..163208645,5	MCF-7	breast:

Extended variants
information (count: 141 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200504044	chr3:162769084-162769085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146295624	chr3:162769107-162769108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150949082	chr3:162769138-162769139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9823925	chr3:162769145-162769146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188783500	chr3:162769184-162769185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533124260	chr3:162769203-162769204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9824108	chr3:162769266-162769267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530005630	chr3:162769274-162769275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543916847	chr3:162769287-162769288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200907721	chr3:162769303-162769304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9841791	chr3:162769378-162769379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531570458	chr3:162769403-162769404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140782821	chr3:162769404-162769405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375268784	chr3:162769419-162769420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150128561	chr3:162769423-162769424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35895206	chr3:162769431-162769432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9841958	chr3:162769497-162769498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541973345	chr3:162769508-162769509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74637674	chr3:162769594-162769595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114399312	chr3:162769600-162769601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546933952	chr3:162769613-162769614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78129353	chr3:162769625-162769626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77130212	chr3:162769630-162769631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34942202	chr3:162769678-162769679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73016993	chr3:162769742-162769743	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541759860	chr3:162769821-162769822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540459733	chr3:162769882-162769883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191678787	chr3:162769901-162769902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543439646	chr3:162769914-162769915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34872399	chr3:162769937-162769938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577266117	chr3:162769944-162769945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141430032	chr3:162769947-162769948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564747592	chr3:162769970-162769971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147019191	chr3:162769980-162769981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139012734	chr3:162769989-162769990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185341169	chr3:162769997-162769998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6548368	chr3:162770007-162770008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564259734	chr3:162770029-162770030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11705866	chr3:162770197-162770198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555800311	chr3:162771608-162771609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182396701	chr3:162771609-162771610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574571898	chr3:162771610-162771611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4858904	chr3:162771611-162771612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35691841	chr3:162771623-162771624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530260220	chr3:162771624-162771625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78443389	chr3:162771641-162771642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542160155	chr3:162771651-162771652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560462195	chr3:162771652-162771653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4858905	chr3:162771666-162771667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4858906	chr3:162771685-162771686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162769000-162770200	Enhancers	Dnd41	blood
2	chr3:162771600-162772000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:162775000-162776400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:162775400-162775800	Enhancers	Colon Smooth Muscle	Colon
5	chr3:162775400-162776000	Enhancers	Stomach Smooth Muscle	stomach
6	chr3:162775600-162776200	Enhancers	Adipose Nuclei	Adipose
7	chr3:162775600-162776400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:162775600-162776600	Enhancers	Fetal Stomach	stomach
9	chr3:162775600-162776600	Enhancers	Rectal Smooth Muscle	rectum
10	chr3:162775800-162776200	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr3:162776000-162776200	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr3:162776000-162776400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:162776000-162776600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:162776000-162776600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:162776200-162776600	Enhancers	Fetal Lung	lung
16	chr3:162776200-162776600	Enhancers	Fetal Muscle Leg	muscle
17	chr3:162776200-162776600	Active TSS	Stomach Smooth Muscle	stomach
18	chr3:162776200-162776800	Enhancers	Colon Smooth Muscle	Colon
19	chr3:162776600-162777600	Weak transcription	Fetal Stomach	stomach

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