Variant report

Variant	nsv967191
Chromosome Location	chr3:163758654-163767769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163759624..163761925-chr3:163765313..163767072,2	MCF-7	breast:
2	chr3:163756511..163759205-chr3:163797731..163799263,2	MCF-7	breast:
3	chr3:163759624..163761925-chr3:163765313..163767072,2	MCF-7	breast:

Extended variants
information (count: 323 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373386924	chr3:163758663-163758664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181708512	chr3:163758673-163758674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554537547	chr3:163758779-163758780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79716109	chr3:163758820-163758821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543860772	chr3:163758858-163758859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557180033	chr3:163758879-163758880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78426871	chr3:163758921-163758922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541265322	chr3:163758987-163758988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186536192	chr3:163759005-163759006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1993155	chr3:163759013-163759014	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12629375	chr3:163759021-163759022	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542585801	chr3:163759062-163759063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372232438	chr3:163759104-163759105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537069089	chr3:163759147-163759148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146116011	chr3:163759232-163759233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561626423	chr3:163759252-163759253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530426655	chr3:163759327-163759328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550621357	chr3:163759347-163759348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570467633	chr3:163759359-163759360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77948282	chr3:163759396-163759397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546365656	chr3:163759405-163759406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566373918	chr3:163759459-163759460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7638975	chr3:163759483-163759484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549987985	chr3:163759507-163759508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139724268	chr3:163759533-163759534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537074653	chr3:163759589-163759590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374280909	chr3:163759592-163759593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377191097	chr3:163759606-163759607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147482592	chr3:163759611-163759612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370069056	chr3:163759618-163759619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368644981	chr3:163759625-163759626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71635242	chr3:163759626-163759627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200918168	chr3:163759628-163759629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7639156	chr3:163759630-163759631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71156828	chr3:163759650-163759651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371388654	chr3:163759651-163759652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74736112	chr3:163759684-163759685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190987662	chr3:163759685-163759686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539967619	chr3:163759695-163759696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113326983	chr3:163759753-163759754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553601879	chr3:163759755-163759756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573486405	chr3:163759772-163759773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7639261	chr3:163759784-163759785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562265850	chr3:163759807-163759808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34478373	chr3:163759829-163759830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7650799	chr3:163759876-163759877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77007043	chr3:163759877-163759878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11710964	chr3:163759896-163759897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546326926	chr3:163759975-163759976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372889005	chr3:163759979-163759980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163758400-163771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163758600-163759400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:163758600-163759400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:163758600-163759800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:163759800-163761200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:163761400-163761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:163763800-163764000	Enhancers	Placenta	Placenta
8	chr3:163764000-163768000	Weak transcription	Placenta	Placenta
9	chr3:163765800-163766000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:163766000-163766200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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