Variant report

Variant	nsv945478
Chromosome Location	chr1:195364295-195372816
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	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
2	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 96 )

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	rs571901459	chr1:195364357-195364358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192243715	chr1:195364362-195364363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184352820	chr1:195364377-195364378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188707021	chr1:195364418-195364419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543674098	chr1:195364460-195364461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138982946	chr1:195364476-195364477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116452366	chr1:195364503-195364504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541160911	chr1:195364504-195364505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181427767	chr1:195364514-195364515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573408398	chr1:195364568-195364569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559699397	chr1:195364574-195364575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142138168	chr1:195364619-195364620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549854567	chr1:195364634-195364635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563611360	chr1:195364637-195364638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531088261	chr1:195364696-195364697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552769784	chr1:195364716-195364717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570946084	chr1:195364718-195364719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538730953	chr1:195364730-195364731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184862582	chr1:195364767-195364768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372686982	chr1:195364775-195364776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76175430	chr1:195364809-195364810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35425841	chr1:195364824-195364825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77952646	chr1:195364846-195364847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536226199	chr1:195364914-195364915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189274064	chr1:195364985-195364986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571409454	chr1:195365007-195365008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377434827	chr1:195365025-195365026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538490486	chr1:195365049-195365050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180821160	chr1:195365097-195365098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368066621	chr1:195365103-195365104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74552407	chr1:195365129-195365130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186366612	chr1:195365144-195365145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567377735	chr1:195365182-195365183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199786957	chr1:195365188-195365189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566597805	chr1:195365208-195365209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541521727	chr1:195365214-195365215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574755431	chr1:195365230-195365231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190717803	chr1:195365282-195365283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181579481	chr1:195365315-195365316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186030179	chr1:195365363-195365364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138302709	chr1:195365412-195365413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190491867	chr1:195365421-195365422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183121361	chr1:195365432-195365433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186448624	chr1:195365436-195365437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564712806	chr1:195365454-195365455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190842050	chr1:195365508-195365509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547491500	chr1:195365513-195365514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565809660	chr1:195365517-195365518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147565247	chr1:195365564-195365565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182702418	chr1:195365576-195365577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195363200-195364400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:195363800-195364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:195364400-195367200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:195367200-195367600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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