Variant report

Variant	esv3363737
Chromosome Location	chr1:196238450-196240064
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	chr1:196238571..196241634-chr1:196242827..196245054,3	K562	blood:
2	chr1:196236508..196239294-chr1:196241392..196244086,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554805736	chr1:196238474-196238475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552070813	chr1:196238475-196238476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142861067	chr1:196238488-196238489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566883529	chr1:196238504-196238505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533894436	chr1:196238524-196238525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145852972	chr1:196238535-196238536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567646347	chr1:196238556-196238557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115107536	chr1:196238601-196238602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74133650	chr1:196238648-196238649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575060898	chr1:196238657-196238658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1925337	chr1:196238726-196238727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557583779	chr1:196238792-196238793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537295715	chr1:196238807-196238808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191033517	chr1:196238828-196238829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539835981	chr1:196238829-196238830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16839693	chr1:196238838-196238839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182551908	chr1:196238893-196238894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578073330	chr1:196238905-196238906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544298737	chr1:196238913-196238914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189208207	chr1:196238916-196238917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545496955	chr1:196238952-196238953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192461268	chr1:196239002-196239003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183289668	chr1:196239022-196239023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560619824	chr1:196239049-196239050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572438038	chr1:196239056-196239057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527725228	chr1:196239073-196239074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549094080	chr1:196239106-196239107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138424700	chr1:196239122-196239123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187579491	chr1:196239125-196239126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549822972	chr1:196239134-196239135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568714603	chr1:196239143-196239144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539243008	chr1:196239221-196239222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192000183	chr1:196239223-196239224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566636985	chr1:196239262-196239263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142924148	chr1:196239281-196239282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555092697	chr1:196239296-196239297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2477354	chr1:196239368-196239369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532353026	chr1:196239398-196239399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16839698	chr1:196239400-196239401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556250795	chr1:196239452-196239453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2477556	chr1:196239475-196239476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545609281	chr1:196239476-196239477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560877391	chr1:196239486-196239487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184902386	chr1:196239504-196239505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75225870	chr1:196239536-196239537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189563100	chr1:196239552-196239553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192797070	chr1:196239580-196239581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16839700	chr1:196239632-196239633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs184260668	chr1:196239704-196239705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189433877	chr1:196239705-196239706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196214000-196241400	Weak transcription	Liver	Liver
2	chr1:196214600-196247800	Weak transcription	Ovary	ovary
3	chr1:196234800-196248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:196234800-196252200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:196234800-196255400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:196236400-196248600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:196236600-196247800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:196236800-196249400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:196237000-196246000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:196237000-196249800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:196237000-196253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:196237200-196253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:196237800-196245400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:196239600-196240000	Enhancers	Fetal Lung	lung
15	chr1:196240000-196240200	Enhancers	Fetal Stomach	stomach
16	chr1:196240000-196252200	Weak transcription	Fetal Lung	lung

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