Variant report

Variant	esv3319472
Chromosome Location	chr1:191914929-191920327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCHL5-7	chr1:191919999-191920464	NONHSAT008526

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	rs6697186	chr1:191915202-191915203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568212155	chr1:191915209-191915210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536369642	chr1:191915210-191915211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547024134	chr1:191915211-191915212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538202405	chr1:191915226-191915227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566536914	chr1:191915271-191915272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377056589	chr1:191915277-191915278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190859135	chr1:191915283-191915284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570844485	chr1:191915293-191915294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558523698	chr1:191915294-191915295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144739601	chr1:191915309-191915310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538512608	chr1:191915313-191915314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554877915	chr1:191915339-191915340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115704858	chr1:191915370-191915371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539963977	chr1:191915376-191915377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560331411	chr1:191915383-191915384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577011518	chr1:191915477-191915478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545843892	chr1:191915489-191915490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562453629	chr1:191915498-191915499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183024638	chr1:191915503-191915504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377499531	chr1:191915517-191915518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187118471	chr1:191915534-191915535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527441136	chr1:191915559-191915560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192329295	chr1:191915565-191915566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535645035	chr1:191915579-191915580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566670610	chr1:191915606-191915607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532445750	chr1:191915680-191915681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557179174	chr1:191915696-191915697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558239985	chr1:191920043-191920044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs193018461	chr1:191920044-191920045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs537095196	chr1:191920076-191920077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs143934240	chr1:191920117-191920118	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs574270774	chr1:191920158-191920159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs147234190	chr1:191920159-191920160	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs12081994	chr1:191920176-191920177	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12738117	chr1:191920182-191920183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs573062189	chr1:191920226-191920227	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs559568474	chr1:191920262-191920263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs185591537	chr1:191920279-191920280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs530604633	chr1:191920281-191920282	Inactive region	lncRNA	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191915200-191915800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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