Variant report

Variant	nsv872736
Chromosome Location	chr1:189764331-189774401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7554297	chr1:189764331-189764332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9427691	chr1:189764356-189764357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567998072	chr1:189764363-189764364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148494245	chr1:189764370-189764371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371730746	chr1:189764371-189764372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554287287	chr1:189764375-189764376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150101225	chr1:189764379-189764380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546928790	chr1:189764384-189764385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566867895	chr1:189764411-189764412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538621520	chr1:189764418-189764419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559031230	chr1:189764436-189764437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558426981	chr1:189764521-189764522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138914573	chr1:189764556-189764557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374900619	chr1:189764586-189764587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536887261	chr1:189764593-189764594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556735587	chr1:189764652-189764653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6427783	chr1:189764664-189764665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567011192	chr1:189764675-189764676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6427784	chr1:189764692-189764693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542954355	chr1:189764706-189764707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72737971	chr1:189764732-189764733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531966528	chr1:189764742-189764743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544658137	chr1:189764749-189764750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113708305	chr1:189764829-189764830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1591870	chr1:189764853-189764854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544864955	chr1:189764860-189764861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370352260	chr1:189764904-189764905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111840990	chr1:189764914-189764915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199691541	chr1:189764916-189764917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28796393	chr1:189764922-189764923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200975422	chr1:189764923-189764924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562164529	chr1:189764929-189764930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193240808	chr1:189764961-189764962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149403771	chr1:189764970-189764971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116734272	chr1:189765000-189765001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143834965	chr1:189765002-189765003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79196658	chr1:189765003-189765004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552271620	chr1:189765023-189765024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374732252	chr1:189765042-189765043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569057760	chr1:189765064-189765065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1578142	chr1:189765121-189765122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376279749	chr1:189765152-189765153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113403773	chr1:189765169-189765170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566121988	chr1:189765172-189765173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534079742	chr1:189765177-189765178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372183007	chr1:189765178-189765179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113034569	chr1:189765212-189765213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567140895	chr1:189765221-189765222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12733496	chr1:189765244-189765245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12750969	chr1:189765245-189765246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Ewing''s sarcoma	17952124	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
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189761800-189765400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:189773400-189773800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:189773400-189773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:189773400-189773800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:189773400-189774000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:189773400-189774000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:189773400-189774000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:189773400-189774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:189773400-189774000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:189773400-189774200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:189773600-189774000	Enhancers	HUES6 Cell Line	embryonic stem cell

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