Variant report

Variant	nsv516016
Chromosome Location	chr1:192570707-192572111
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	chr1:192562577..192564599-chr1:192570669..192572965,2	K562	blood:
2	chr1:192571236..192573470-chr1:192573934..192576189,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12132539	chr1:192570707-192570708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551189521	chr1:192570717-192570718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564503568	chr1:192570728-192570729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12036868	chr1:192570793-192570794	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544247021	chr1:192570795-192570796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560827615	chr1:192570801-192570802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529479298	chr1:192570803-192570804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549643993	chr1:192570839-192570840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566354539	chr1:192570840-192570841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376071282	chr1:192570876-192570877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368619307	chr1:192570903-192570904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573141063	chr1:192571037-192571038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186320353	chr1:192571045-192571046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145259651	chr1:192571070-192571071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571571712	chr1:192571086-192571087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537060599	chr1:192571139-192571140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371924749	chr1:192571171-192571172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369997989	chr1:192571173-192571174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1407819	chr1:192571193-192571194	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536019162	chr1:192571214-192571215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16834546	chr1:192571244-192571245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78946129	chr1:192571287-192571288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538514383	chr1:192571307-192571308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558429579	chr1:192571324-192571325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575134590	chr1:192571359-192571360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79660539	chr1:192571416-192571417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373760682	chr1:192571417-192571418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377484302	chr1:192571421-192571422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369221379	chr1:192571423-192571424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145502800	chr1:192571435-192571436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369626818	chr1:192571442-192571443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543909566	chr1:192571450-192571451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561034856	chr1:192571461-192571462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574475761	chr1:192571527-192571528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573495077	chr1:192571541-192571542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371956925	chr1:192571585-192571586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114406817	chr1:192571617-192571618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559958747	chr1:192571623-192571624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528699771	chr1:192571648-192571649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61822572	chr1:192571664-192571665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35449900	chr1:192571689-192571690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386369145	chr1:192571691-192571692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386354468	chr1:192571697-192571698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199622371	chr1:192571698-192571699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140005085	chr1:192571751-192571752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530928622	chr1:192571771-192571772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143600745	chr1:192571799-192571800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567731443	chr1:192571872-192571873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536309794	chr1:192571874-192571875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546713456	chr1:192571875-192571876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	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
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192569800-192571200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:192570000-192570800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr1:192570000-192571000	Enhancers	GM12878-XiMat	blood
4	chr1:192570000-192571200	Enhancers	HSMMtube	muscle
5	chr1:192570200-192571200	Enhancers	Dnd41	blood
6	chr1:192570400-192571000	Enhancers	Aorta	Aorta
7	chr1:192570400-192571200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:192570400-192571200	Enhancers	NH-A	brain
9	chr1:192570400-192571400	Enhancers	HSMM	muscle
10	chr1:192570400-192573800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:192570600-192571000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:192570600-192571000	Enhancers	HUVEC	blood vessel
13	chr1:192570600-192571400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:192570600-192571400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:192570600-192574600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:192570800-192571000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:192570800-192571000	Enhancers	Fetal Heart	heart
18	chr1:192570800-192571200	Enhancers	NHDF-Ad	bronchial
19	chr1:192571000-192572000	Weak transcription	GM12878-XiMat	blood
20	chr1:192571000-192574200	Weak transcription	Aorta	Aorta
21	chr1:192571000-192574200	Weak transcription	Fetal Heart	heart
22	chr1:192571200-192571600	Weak transcription	Dnd41	blood
23	chr1:192571200-192573800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:192571400-192571800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:192571400-192573800	Weak transcription	HSMM	muscle
26	chr1:192571600-192572800	Enhancers	Dnd41	blood
27	chr1:192571800-192572400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:192572000-192572400	Flanking Active TSS	GM12878-XiMat	blood
29	chr1:192572000-192573000	Enhancers	Liver	Liver

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