Variant report

Variant	nsv825775
Chromosome Location	chr1:191611674-191614416
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	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
2	chr1:191605237..191607003-chr1:191610030..191611864,2	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	rs572978261	chr1:191611676-191611677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115182496	chr1:191611684-191611685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573431741	chr1:191611832-191611833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371031466	chr1:191611833-191611834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558283845	chr1:191611847-191611848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531513844	chr1:191611851-191611852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181079112	chr1:191611952-191611953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187150585	chr1:191612007-191612008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375566160	chr1:191612013-191612014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191554041	chr1:191612084-191612085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182546138	chr1:191612104-191612105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540040904	chr1:191612179-191612180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573974666	chr1:191612227-191612228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145535519	chr1:191612325-191612326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528578102	chr1:191612344-191612345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551721397	chr1:191612359-191612360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200760384	chr1:191612361-191612362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187117513	chr1:191612398-191612399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72727134	chr1:191612406-191612407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138157538	chr1:191612421-191612422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140971812	chr1:191612523-191612524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536798607	chr1:191612560-191612561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547226179	chr1:191612608-191612609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566540425	chr1:191612637-191612638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372445857	chr1:191612638-191612639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10920981	chr1:191612714-191612715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376741707	chr1:191612719-191612720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575121770	chr1:191612725-191612726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200659929	chr1:191612779-191612780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192178757	chr1:191612801-191612802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554520583	chr1:191612802-191612803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535613903	chr1:191612878-191612879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369453633	chr1:191612883-191612884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11325132	chr1:191612907-191612908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397862304	chr1:191612916-191612917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540002844	chr1:191612919-191612920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568374656	chr1:191612939-191612940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558681421	chr1:191612965-191612966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559935208	chr1:191612977-191612978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576653304	chr1:191612999-191613000	Enhancers	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
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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191611400-191612800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:191612800-191613000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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