Variant report

Variant	esv1008555
Chromosome Location	chr1:209409577-209416496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209412016..209414159-chr1:209416061..209418211,2	K562	blood:
2	chr1:209412016..209414159-chr1:209416061..209418211,2	K562	blood:
3	chr1:209414000..209416153-chr1:209437703..209440294,2	MCF-7	breast:
4	chr1:209401346..209403763-chr1:209407691..209409973,2	MCF-7	breast:

Extended variants
information (count: 240 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146078828	chr1:209409614-209409615	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558927800	chr1:209409635-209409636	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562751850	chr1:209409772-209409773	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61536866	chr1:209409790-209409791	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537980568	chr1:209409844-209409845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186597128	chr1:209409858-209409859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77145131	chr1:209409864-209409865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17014177	chr1:209409885-209409886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116534545	chr1:209409931-209409932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571235751	chr1:209409944-209409945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538951847	chr1:209409953-209409954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189770171	chr1:209409984-209409985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78617472	chr1:209410009-209410010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536046336	chr1:209410012-209410013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182996190	chr1:209410082-209410083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573233419	chr1:209410093-209410094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571244304	chr1:209410098-209410099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540692996	chr1:209410119-209410120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139601581	chr1:209410139-209410140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372419805	chr1:209410142-209410143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544506252	chr1:209410174-209410175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562839318	chr1:209410182-209410183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576947638	chr1:209410244-209410245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76323445	chr1:209410289-209410290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116307959	chr1:209410314-209410315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201803750	chr1:209410346-209410347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143486134	chr1:209410347-209410348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115642122	chr1:209410400-209410401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549173204	chr1:209410406-209410407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561184343	chr1:209410456-209410457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368500137	chr1:209410478-209410479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191425375	chr1:209410495-209410496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183252491	chr1:209410516-209410517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550943865	chr1:209410534-209410535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188610764	chr1:209410535-209410536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536471988	chr1:209410566-209410567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547499627	chr1:209410601-209410602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192276974	chr1:209410610-209410611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116036974	chr1:209410680-209410681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183161440	chr1:209410688-209410689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539436680	chr1:209410806-209410807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115421402	chr1:209410812-209410813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537840058	chr1:209410872-209410873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2800916	chr1:209410881-209410882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs187890808	chr1:209410894-209410895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17260245	chr1:209411025-209411026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs534491486	chr1:209411155-209411156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191141005	chr1:209411159-209411160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572561763	chr1:209411170-209411171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199506997	chr1:209411183-209411184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	20406844	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209409000-209409800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209409800-209422200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:209411600-209412000	Enhancers	HMEC	breast
4	chr1:209411600-209412200	Enhancers	NHEK	skin
5	chr1:209411600-209412400	Enhancers	HUVEC	blood vessel
6	chr1:209411800-209412200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:209413800-209414000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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