Variant report

Variant	esv3435110
Chromosome Location	chr1:239336629-239338927
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	chr1:239338540..239340402-chr1:239341130..239343187,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551555805	chr1:239336667-239336668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569065190	chr1:239336715-239336716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569452703	chr1:239336743-239336744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185370938	chr1:239336809-239336810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539668926	chr1:239336825-239336826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190416602	chr1:239336898-239336899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564703574	chr1:239336906-239336907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557997022	chr1:239336958-239336959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546092614	chr1:239337007-239337008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181686585	chr1:239337013-239337014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531974698	chr1:239337045-239337046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184105464	chr1:239337105-239337106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577815442	chr1:239337168-239337169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550283339	chr1:239337182-239337183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12164640	chr1:239337190-239337191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188469620	chr1:239337254-239337255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576645895	chr1:239337278-239337279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543912654	chr1:239337324-239337325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562014238	chr1:239337348-239337349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6429130	chr1:239337365-239337366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541019589	chr1:239337373-239337374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150198883	chr1:239337509-239337510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533436831	chr1:239337518-239337519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551592894	chr1:239337543-239337544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4029756	chr1:239337545-239337546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34853316	chr1:239337546-239337547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145238432	chr1:239337555-239337556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397701489	chr1:239337565-239337566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12042521	chr1:239337577-239337578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181322861	chr1:239337648-239337649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371504159	chr1:239337649-239337650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376743148	chr1:239337650-239337651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201039303	chr1:239337667-239337668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61060142	chr1:239337668-239337669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12137929	chr1:239337669-239337670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2262798	chr1:239337676-239337677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202167365	chr1:239337677-239337678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2354179	chr1:239337678-239337679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78223886	chr1:239337680-239337681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368437703	chr1:239337682-239337683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372460691	chr1:239337684-239337685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567207408	chr1:239337729-239337730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534616432	chr1:239337736-239337737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76616413	chr1:239337762-239337763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12736278	chr1:239337777-239337778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538921705	chr1:239337789-239337790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140071120	chr1:239337820-239337821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181100926	chr1:239337836-239337837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547779573	chr1:239337858-239337859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111453760	chr1:239337906-239337907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239331200-239341800	Weak transcription	Liver	Liver

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