Variant report

Variant	esv3404145
Chromosome Location	chr1:196561229-196562477
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	chr1:196555079..196557849-chr1:196559584..196561547,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547434575	chr1:196561260-196561261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542700939	chr1:196561293-196561294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537304569	chr1:196561313-196561314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536380852	chr1:196561348-196561349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71631857	chr1:196561357-196561358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568846168	chr1:196561399-196561400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537694976	chr1:196561404-196561405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190709257	chr1:196561458-196561459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140682638	chr1:196561522-196561523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372341365	chr1:196561570-196561571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541252174	chr1:196561612-196561613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111936478	chr1:196561647-196561648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200145482	chr1:196561656-196561657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376744685	chr1:196561687-196561688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374318761	chr1:196561703-196561704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559926805	chr1:196561715-196561716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201957959	chr1:196561822-196561823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10399651	chr1:196561864-196561865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541957384	chr1:196561869-196561870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563299425	chr1:196561908-196561909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145880564	chr1:196561958-196561959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550019477	chr1:196561962-196561963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565047407	chr1:196562019-196562020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12134548	chr1:196562021-196562022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141611750	chr1:196562025-196562026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565929449	chr1:196562061-196562062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536313162	chr1:196562236-196562237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548310031	chr1:196562240-196562241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569642894	chr1:196562241-196562242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537061393	chr1:196562286-196562287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558559321	chr1:196562296-196562297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150090869	chr1:196562343-196562344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369191349	chr1:196562425-196562426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200795914	chr1:196562426-196562427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10801549	chr1:196562443-196562444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12144897	chr1:196562445-196562446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200255323	chr1:196562447-196562448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553279030	chr1:196562449-196562450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71154753	chr1:196562472-196562473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28516655	chr1:196562473-196562474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Neuroblastoma	20406844	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196557800-196574200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196558000-196574400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:196558400-196574200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:196558400-196575000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:196560200-196568200	Weak transcription	Liver	Liver
6	chr1:196560400-196568600	Weak transcription	Ovary	ovary
7	chr1:196560600-196571200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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