Variant report

Variant	esv3395320
Chromosome Location	chr3:180087658-180091056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563577931	chr3:180087660-180087661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373295331	chr3:180087668-180087669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529208811	chr3:180087688-180087689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566177048	chr3:180087731-180087732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193007701	chr3:180087740-180087741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565783674	chr3:180087743-180087744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534827227	chr3:180087781-180087782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535166178	chr3:180087783-180087784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551461334	chr3:180087794-180087795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111260096	chr3:180087800-180087801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376286398	chr3:180087828-180087829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200951260	chr3:180087847-180087848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145376031	chr3:180087859-180087860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578131133	chr3:180087861-180087862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147663526	chr3:180087865-180087866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535816311	chr3:180087866-180087867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112420938	chr3:180087910-180087911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185316511	chr3:180087961-180087962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572509519	chr3:180087985-180087986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541244028	chr3:180087986-180087987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140626062	chr3:180088025-180088026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577745007	chr3:180088039-180088040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543397298	chr3:180088040-180088041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563574094	chr3:180088075-180088076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557388331	chr3:180088122-180088123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373003307	chr3:180088124-180088125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529185689	chr3:180088150-180088151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548965716	chr3:180088155-180088156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189946289	chr3:180088191-180088192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62290975	chr3:180088198-180088199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551628622	chr3:180088211-180088212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112968481	chr3:180088228-180088229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193001095	chr3:180088254-180088255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550544423	chr3:180088300-180088301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567101699	chr3:180088302-180088303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59143741	chr3:180088319-180088320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555752037	chr3:180088365-180088366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572723071	chr3:180088388-180088389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143547322	chr3:180088408-180088409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184076458	chr3:180088423-180088424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188407399	chr3:180088429-180088430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558968933	chr3:180088444-180088445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543557032	chr3:180088515-180088516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557431807	chr3:180088529-180088530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368997964	chr3:180088580-180088581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543028623	chr3:180088606-180088607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559364345	chr3:180088611-180088612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528428247	chr3:180088625-180088626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528161944	chr3:180088635-180088636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545212394	chr3:180088662-180088663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180085800-180088400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:180086200-180099600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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