Variant report

Variant	esv3460127
Chromosome Location	chr2:48854448-48859946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LHCGR-1	chr2:48859428-48860260	NONHSAT070627

Extended variants
information (count: 242 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559511384	chr2:48854450-48854451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116335685	chr2:48854511-48854512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114314290	chr2:48854515-48854516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548419162	chr2:48854521-48854522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540925284	chr2:48854533-48854534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569808118	chr2:48854569-48854570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369912983	chr2:48854578-48854579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531440403	chr2:48854579-48854580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147432263	chr2:48854629-48854630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571062401	chr2:48854630-48854631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs118075449	chr2:48854641-48854642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57620497	chr2:48854642-48854643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11884585	chr2:48854677-48854678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7601365	chr2:48854685-48854686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11890355	chr2:48854755-48854756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577470794	chr2:48854773-48854774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117259584	chr2:48854791-48854792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370710010	chr2:48854861-48854862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543505239	chr2:48854869-48854870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117728544	chr2:48854900-48854901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139844314	chr2:48854911-48854912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187425379	chr2:48854915-48854916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12469348	chr2:48855069-48855070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548055014	chr2:48855090-48855091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530083701	chr2:48855098-48855099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111385969	chr2:48855125-48855126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563301469	chr2:48855135-48855136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189740412	chr2:48855143-48855144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12997507	chr2:48855196-48855197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147676524	chr2:48855200-48855201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533927893	chr2:48855212-48855213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532320345	chr2:48855214-48855215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547404978	chr2:48855215-48855216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75092480	chr2:48855289-48855290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116219363	chr2:48855295-48855296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116436067	chr2:48855322-48855323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569626481	chr2:48855330-48855331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537167148	chr2:48855337-48855338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185447882	chr2:48855353-48855354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567429852	chr2:48855360-48855361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375704264	chr2:48855387-48855388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190211081	chr2:48855395-48855396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538069401	chr2:48855433-48855434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577392266	chr2:48855468-48855469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541609150	chr2:48855538-48855539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113942160	chr2:48855545-48855546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13024635	chr2:48855589-48855590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372003723	chr2:48855605-48855606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7605031	chr2:48855616-48855617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs116802164	chr2:48855646-48855647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48831000-48859600	Weak transcription	Ovary	ovary
2	chr2:48836600-48862000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:48854000-48873600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:48859600-48860000	ZNF genes & repeats	Ovary	ovary

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