Variant report

Variant	esv33827
Chromosome Location	chr3:163405182-163422100
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	chr3:163419104..163421344-chr3:163422068..163423672,2	K562	blood:
2	chr3:163419104..163421344-chr3:163422068..163423672,2	K562	blood:

Extended variants
information (count: 320 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:320 , 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	rs570753788	chr3:163412434-163412435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539339308	chr3:163412446-163412447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73017265	chr3:163412460-163412461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146495807	chr3:163412476-163412477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139144019	chr3:163412489-163412490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377151591	chr3:163412490-163412491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143168598	chr3:163412491-163412492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113656026	chr3:163412503-163412504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537867820	chr3:163412511-163412512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184110178	chr3:163412546-163412547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528431421	chr3:163412555-163412556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368230244	chr3:163412599-163412600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560741235	chr3:163412600-163412601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528658141	chr3:163412610-163412611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376971614	chr3:163412614-163412615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187613636	chr3:163412615-163412616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386667778	chr3:163412682-163412683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79020328	chr3:163412683-163412684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116673438	chr3:163412686-163412687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192147292	chr3:163412708-163412709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545421413	chr3:163412736-163412737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372873783	chr3:163412759-163412760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572020408	chr3:163412787-163412788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568156306	chr3:163412796-163412797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529188192	chr3:163412821-163412822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565130994	chr3:163412859-163412860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373806975	chr3:163412964-163412965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375758560	chr3:163413002-163413003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546534539	chr3:163413055-163413056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560172713	chr3:163413071-163413072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566686441	chr3:163413100-163413101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185075316	chr3:163413114-163413115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190223886	chr3:163413115-163413116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569006209	chr3:163413159-163413160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180908373	chr3:163413161-163413162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557782474	chr3:163413163-163413164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113699442	chr3:163413172-163413173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534516914	chr3:163413185-163413186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369214611	chr3:163413205-163413206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184194037	chr3:163413252-163413253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573920955	chr3:163413278-163413279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139409111	chr3:163413316-163413317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556325939	chr3:163413330-163413331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576172195	chr3:163413332-163413333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545123176	chr3:163413336-163413337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9814161	chr3:163413341-163413342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6769455	chr3:163413372-163413373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs13064979	chr3:163413466-163413467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560472561	chr3:163413481-163413482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529186430	chr3:163413495-163413496	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163412400-163415800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:163414000-163417200	Enhancers	Placenta	Placenta
3	chr3:163415800-163417200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:163417200-163418400	Weak transcription	Placenta	Placenta
5	chr3:163418400-163418800	Enhancers	Placenta	Placenta

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