Variant report

Variant	nsv976537
Chromosome Location	chr12:21081607-21085453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO1A2-5	chr12:21083248-21084757	NONHSAT027238

Extended variants
information (count: 154 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183244428	chr12:21081608-21081609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575649639	chr12:21081651-21081652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559323169	chr12:21081685-21081686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528103245	chr12:21081694-21081695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373679112	chr12:21081738-21081739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115515365	chr12:21081757-21081758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551341810	chr12:21081758-21081759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78404601	chr12:21081765-21081766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187568716	chr12:21081770-21081771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150390267	chr12:21081785-21081786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559245111	chr12:21081877-21081878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7485322	chr12:21081885-21081886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138161608	chr12:21081892-21081893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142828557	chr12:21081899-21081900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536786043	chr12:21081966-21081967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550635461	chr12:21082018-21082019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550415282	chr12:21082064-21082065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77171290	chr12:21082117-21082118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146086846	chr12:21082126-21082127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550797118	chr12:21082153-21082154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573585265	chr12:21082167-21082168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539288633	chr12:21082195-21082196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558929349	chr12:21082221-21082222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76159953	chr12:21082222-21082223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567426559	chr12:21082224-21082225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544416296	chr12:21082233-21082234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535966473	chr12:21082264-21082265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs919842	chr12:21082276-21082277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75774874	chr12:21082294-21082295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543500530	chr12:21082323-21082324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140091415	chr12:21082333-21082334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560076759	chr12:21082389-21082390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192160436	chr12:21082432-21082433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545285147	chr12:21082434-21082435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57794204	chr12:21082437-21082438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184242892	chr12:21082450-21082451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189905469	chr12:21082478-21082479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567383730	chr12:21082603-21082604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192984740	chr12:21082669-21082670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369364403	chr12:21082676-21082677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184721899	chr12:21082712-21082713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189654382	chr12:21082747-21082748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142138337	chr12:21082778-21082779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111448161	chr12:21082782-21082783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559190803	chr12:21082790-21082791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569382181	chr12:21082823-21082824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180694017	chr12:21082826-21082827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538456207	chr12:21082885-21082886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554832926	chr12:21082904-21082905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574603189	chr12:21082941-21082942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21081000-21103400	Weak transcription	Liver	Liver
2	chr12:21084800-21085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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