Variant report

Variant	nsv898884
Chromosome Location	chr12:21309714-21317352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 311 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11045797	chr12:21309714-21309715	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112737536	chr12:21309741-21309742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557585299	chr12:21309752-21309753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191878851	chr12:21309780-21309781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575891169	chr12:21309843-21309844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536528098	chr12:21309922-21309923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533128461	chr12:21309947-21309948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553643209	chr12:21309956-21309957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184266583	chr12:21309957-21309958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369285268	chr12:21309967-21309968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544604494	chr12:21310008-21310009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4149025	chr12:21310009-21310010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188554124	chr12:21310044-21310045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543952400	chr12:21310046-21310047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560899218	chr12:21310079-21310080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180942100	chr12:21310108-21310109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113846922	chr12:21310159-21310160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549684154	chr12:21310170-21310171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546544663	chr12:21310176-21310177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555927019	chr12:21310182-21310183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370480133	chr12:21310194-21310195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185770993	chr12:21310199-21310200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560420233	chr12:21310201-21310202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117232450	chr12:21310229-21310230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528429112	chr12:21310245-21310246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551808638	chr12:21310248-21310249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73244881	chr12:21310307-21310308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376042103	chr12:21310356-21310357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571886127	chr12:21310383-21310384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368986425	chr12:21310402-21310403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190827968	chr12:21310410-21310411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138682840	chr12:21310426-21310427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182028345	chr12:21310430-21310431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537911623	chr12:21310454-21310455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373341875	chr12:21310472-21310473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536871336	chr12:21310534-21310535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533368425	chr12:21310535-21310536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372475615	chr12:21310541-21310542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553340521	chr12:21310544-21310545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563665977	chr12:21310570-21310571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71442300	chr12:21310579-21310580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575892224	chr12:21310596-21310597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185971397	chr12:21310599-21310600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190582821	chr12:21310627-21310628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11045798	chr12:21310634-21310635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543890437	chr12:21310654-21310655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113715933	chr12:21310656-21310657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574520625	chr12:21310680-21310681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185493118	chr12:21310693-21310694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560148717	chr12:21310704-21310705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
Basal cell lymphoma	17053054	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
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
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	17550852	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21309000-21310400	Enhancers	Liver	Liver
2	chr12:21310400-21316600	Weak transcription	Liver	Liver
3	chr12:21316600-21317000	Enhancers	Liver	Liver
4	chr12:21317000-21321000	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links