Variant report

Variant	nsv947558
Chromosome Location	chr1:194487796-194499277
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	chr1:194490383..194492848-chr1:194494979..194497910,2	K562	blood:
2	chr1:194490383..194492848-chr1:194494979..194497910,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115721945	chr1:194487860-194487861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145310696	chr1:194487871-194487872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10684286	chr1:194487872-194487873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386369185	chr1:194487873-194487874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397727427	chr1:194487876-194487877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568530095	chr1:194487886-194487887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535696131	chr1:194487888-194487889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374008503	chr1:194487906-194487907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557107647	chr1:194487926-194487927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180789330	chr1:194487953-194487954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549963538	chr1:194487967-194487968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35939847	chr1:194488006-194488007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546053446	chr1:194488011-194488012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558544744	chr1:194488027-194488028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371443148	chr1:194488088-194488089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142714381	chr1:194488135-194488136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559223647	chr1:194488145-194488146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532181811	chr1:194488161-194488162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374858577	chr1:194488162-194488163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150580290	chr1:194488202-194488203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542074696	chr1:194488211-194488212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16837085	chr1:194488293-194488294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs55811901	chr1:194488309-194488310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201914107	chr1:194488326-194488327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10921597	chr1:194488329-194488330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371201551	chr1:194488339-194488340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564510382	chr1:194488408-194488409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76444882	chr1:194488416-194488417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376740406	chr1:194488421-194488422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568486094	chr1:194488450-194488451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535536998	chr1:194488485-194488486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369815467	chr1:194488496-194488497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550777590	chr1:194488511-194488512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189781813	chr1:194488557-194488558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539746569	chr1:194488581-194488582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561431582	chr1:194490413-194490414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2494319	chr1:194490524-194490525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550448457	chr1:194490547-194490548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562353034	chr1:194490563-194490564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148385367	chr1:194490564-194490565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563508108	chr1:194490570-194490571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566590636	chr1:194490574-194490575	Enhancers	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
Melanoma	20688739	CNVD
small cell lung cancer	20016488	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	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194487400-194488400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:194488400-194488600	Enhancers	Primary B cells from cord blood	blood
3	chr1:194490400-194490600	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links