Variant report

Variant	esv3374740
Chromosome Location	chr2:40204673-40207421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs372620409	chr2:40204684-40204685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374545717	chr2:40204691-40204692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377435112	chr2:40204717-40204718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575421323	chr2:40204726-40204727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138871120	chr2:40204742-40204743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7574807	chr2:40204763-40204764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529557488	chr2:40204769-40204770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185762362	chr2:40204789-40204790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559680099	chr2:40204808-40204809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533219407	chr2:40204864-40204865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551846100	chr2:40204870-40204871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569772457	chr2:40204880-40204881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142877784	chr2:40204888-40204889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548736348	chr2:40204928-40204929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147017800	chr2:40204941-40204942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534901646	chr2:40204965-40204966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553019710	chr2:40204970-40204971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148066391	chr2:40204980-40204981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141611423	chr2:40204992-40204993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59178576	chr2:40205020-40205021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575383999	chr2:40205023-40205024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542759732	chr2:40205026-40205027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555981807	chr2:40205028-40205029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191059577	chr2:40205041-40205042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541710642	chr2:40205059-40205060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58122469	chr2:40205070-40205071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368404824	chr2:40205136-40205137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114832506	chr2:40205176-40205177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77872276	chr2:40205195-40205196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576787213	chr2:40205200-40205201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563360672	chr2:40205222-40205223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79699743	chr2:40205238-40205239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549099614	chr2:40205247-40205248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370394634	chr2:40205261-40205262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540640540	chr2:40205289-40205290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546862885	chr2:40205297-40205298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571405884	chr2:40205298-40205299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139491139	chr2:40205306-40205307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371541291	chr2:40205313-40205314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141688950	chr2:40205335-40205336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79584119	chr2:40205353-40205354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536333797	chr2:40205360-40205361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554754056	chr2:40205366-40205367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563155491	chr2:40205369-40205370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368138151	chr2:40205371-40205372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113028415	chr2:40205389-40205390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376043042	chr2:40205400-40205401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578165259	chr2:40205405-40205406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545308199	chr2:40205407-40205408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563324003	chr2:40205427-40205428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40182000-40218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:40203800-40209000	Weak transcription	Fetal Stomach	stomach
3	chr2:40204400-40206200	Weak transcription	Dnd41	blood
4	chr2:40204600-40209000	Weak transcription	Ovary	ovary

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