Variant report

Variant	esv3358860
Chromosome Location	chr3:163134299-163183965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163153075..163155845-chr3:163158514..163160684,2	K562	blood:
2	chr3:163121369..163123913-chr3:163134434..163136619,2	K562	blood:
3	chr3:163153075..163155845-chr3:163158514..163160684,2	K562	blood:

Extended variants
information (count: 803 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151063108	chr3:163136052-163136053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549504612	chr3:163136091-163136092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13092728	chr3:163136117-163136118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186077081	chr3:163136137-163136138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189748338	chr3:163136240-163136241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570751833	chr3:163136254-163136255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573602253	chr3:163136280-163136281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182335815	chr3:163136306-163136307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185061774	chr3:163136308-163136309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566333344	chr3:163136323-163136324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376504851	chr3:163136328-163136329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555059272	chr3:163136362-163136363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548386630	chr3:163136369-163136370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574878339	chr3:163136379-163136380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544220253	chr3:163136406-163136407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566679026	chr3:163136434-163136435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73023397	chr3:163136451-163136452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149001481	chr3:163136654-163136655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182913993	chr3:163136668-163136669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534241442	chr3:163136704-163136705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540577682	chr3:163136812-163136813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552416979	chr3:163136826-163136827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34658378	chr3:163136828-163136829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150485405	chr3:163136883-163136884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188714435	chr3:163136932-163136933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137893011	chr3:163136940-163136941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192841993	chr3:163136960-163136961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11372389	chr3:163136967-163136968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs398040173	chr3:163136978-163136979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531585734	chr3:163136982-163136983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551799316	chr3:163137038-163137039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183372915	chr3:163137047-163137048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533214173	chr3:163137049-163137050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546510874	chr3:163137062-163137063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546962030	chr3:163137089-163137090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566294826	chr3:163137090-163137091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563238343	chr3:163137127-163137128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142399850	chr3:163137194-163137195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548645050	chr3:163137201-163137202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532054981	chr3:163137213-163137214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568978396	chr3:163137293-163137294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35841240	chr3:163137296-163137297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144649496	chr3:163137312-163137313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4579017	chr3:163137314-163137315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188063126	chr3:163137336-163137337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557693217	chr3:163137345-163137346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537877553	chr3:163137350-163137351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577566581	chr3:163137365-163137366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534469260	chr3:163137370-163137371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536228283	chr3:163137385-163137386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163136000-163144200	Weak transcription	Aorta	Aorta
2	chr3:163144200-163144400	ZNF genes & repeats	Aorta	Aorta
3	chr3:163156800-163157400	Enhancers	Adipose Nuclei	Adipose
4	chr3:163166400-163168600	Weak transcription	Aorta	Aorta
5	chr3:163168600-163169400	ZNF genes & repeats	Aorta	Aorta
6	chr3:163169400-163179400	Weak transcription	Aorta	Aorta
7	chr3:163171800-163172000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:163172800-163173200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:163172800-163173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:163176600-163177000	Enhancers	Hela-S3	cervix
11	chr3:163177000-163177400	Active TSS	Hela-S3	cervix
12	chr3:163179200-163180000	Enhancers	Adipose Nuclei	Adipose
13	chr3:163179400-163180000	Enhancers	Aorta	Aorta

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