Variant report

Variant	esv3367733
Chromosome Location	chr1:196967229-196970527
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	chr1:196969979..196972874-chr1:196985004..196987728,2	K562	blood:
2	chr1:196964622..196966252-chr1:196968274..196969971,2	MCF-7	breast:

Extended variants
information (count: 129 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532544027	chr1:196967237-196967238	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547435808	chr1:196967238-196967239	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150007386	chr1:196967295-196967296	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533809706	chr1:196967298-196967299	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373395304	chr1:196967299-196967300	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369790664	chr1:196967310-196967311	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555221057	chr1:196967316-196967317	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201472083	chr1:196967318-196967319	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567158878	chr1:196967328-196967329	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372608579	chr1:196967337-196967338	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370149020	chr1:196967347-196967348	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35662416	chr1:196967354-196967355	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376503032	chr1:196967385-196967386	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556270179	chr1:196967403-196967404	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376742710	chr1:196967405-196967406	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111327589	chr1:196967422-196967423	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544997795	chr1:196967427-196967428	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553453505	chr1:196967452-196967453	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1332664	chr1:196967458-196967459	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373303829	chr1:196967479-196967480	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543369125	chr1:196967487-196967488	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561546276	chr1:196967488-196967489	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531979314	chr1:196967502-196967503	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116891819	chr1:196967528-196967529	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149179493	chr1:196967546-196967547	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532466807	chr1:196967596-196967597	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547793406	chr1:196967610-196967611	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552535913	chr1:196967613-196967614	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370215662	chr1:196967623-196967624	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530022315	chr1:196967646-196967647	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548907321	chr1:196967698-196967699	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567220154	chr1:196967754-196967755	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189880975	chr1:196967761-196967762	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145121198	chr1:196967789-196967790	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571332917	chr1:196967813-196967814	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61820785	chr1:196967852-196967853	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138999082	chr1:196967891-196967892	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553806889	chr1:196967920-196967921	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376106359	chr1:196967966-196967967	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574416792	chr1:196967970-196967971	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536242209	chr1:196967991-196967992	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555308181	chr1:196968009-196968010	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576772235	chr1:196968018-196968019	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180677553	chr1:196968047-196968048	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565310554	chr1:196968059-196968060	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577348142	chr1:196968063-196968064	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551339068	chr1:196968072-196968073	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541202184	chr1:196968143-196968144	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79111511	chr1:196968144-196968145	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530083149	chr1:196968203-196968204	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196964600-196968600	Strong transcription	Liver	Liver
2	chr1:196966200-196967400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:196966600-196967600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:196967000-196967400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:196968600-196971600	Weak transcription	Liver	Liver

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