Variant report

Variant	esv21047
Chromosome Location	chr2:31403351-31411711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:31407024..31409183-chr2:31430215..31431751,2	MCF-7	breast:
2	chr2:31408453..31411420-chr2:31417636..31420052,2	MCF-7	breast:
3	chr2:31410117..31413014-chr2:31413496..31415542,2	MCF-7	breast:

Extended variants
information (count: 370 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60854003	chr2:31403360-31403361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566347083	chr2:31403362-31403363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182386297	chr2:31403370-31403371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548762420	chr2:31403395-31403396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568516155	chr2:31403406-31403407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536357764	chr2:31403474-31403475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78705783	chr2:31403520-31403521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377102621	chr2:31403522-31403523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115428238	chr2:31403539-31403540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149760139	chr2:31403573-31403574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558454988	chr2:31403603-31403604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572295701	chr2:31403605-31403606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540915300	chr2:31403628-31403629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116356768	chr2:31403654-31403655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574506286	chr2:31403716-31403717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370514331	chr2:31403748-31403749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543956945	chr2:31403848-31403849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372449814	chr2:31403857-31403858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199964386	chr2:31403862-31403863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201159308	chr2:31403875-31403876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76939962	chr2:31403879-31403880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377551095	chr2:31403915-31403916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73921565	chr2:31403920-31403921	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548562879	chr2:31403944-31403945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2028678	chr2:31403947-31403948	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145715824	chr2:31403961-31403962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2028677	chr2:31404001-31404002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs374463082	chr2:31404020-31404021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2028676	chr2:31404031-31404032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368345214	chr2:31404035-31404036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545138483	chr2:31404043-31404044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2028675	chr2:31404064-31404065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116577373	chr2:31404082-31404083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192506296	chr2:31404089-31404090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554541112	chr2:31404108-31404109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532334999	chr2:31404122-31404123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73921566	chr2:31404147-31404148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs563813858	chr2:31404191-31404192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372310273	chr2:31404205-31404206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184807777	chr2:31404209-31404210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561586060	chr2:31404215-31404216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4337516	chr2:31404254-31404255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7569173	chr2:31404264-31404265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538044256	chr2:31404265-31404266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200190396	chr2:31404268-31404269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367769826	chr2:31404295-31404296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187305901	chr2:31404297-31404298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571907957	chr2:31404301-31404302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370290944	chr2:31404309-31404310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192019086	chr2:31404312-31404313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31388400-31407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:31391200-31418600	Weak transcription	Gastric	stomach
3	chr2:31394800-31419600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:31395200-31416600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:31395800-31415000	Weak transcription	Esophagus	oesophagus
6	chr2:31403800-31404000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:31404000-31415800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:31407000-31407600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:31407600-31412800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:31410400-31414600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:31410800-31420400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:31411000-31421800	Weak transcription	Primary T cells from cord blood	blood
13	chr2:31411000-31427400	Weak transcription	Fetal Brain Female	brain
14	chr2:31411200-31436800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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