Variant report

Variant	nsv8936
Chromosome Location	chr12:30407693-30409061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534173869	chr12:30407705-30407706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576751475	chr12:30407717-30407718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540895515	chr12:30407725-30407726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10712519	chr12:30407777-30407778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199663568	chr12:30407781-30407782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559325254	chr12:30407796-30407797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529652309	chr12:30407805-30407806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567895372	chr12:30407811-30407812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541947444	chr12:30407827-30407828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75853909	chr12:30407856-30407857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550418048	chr12:30407862-30407863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192230153	chr12:30407865-30407866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532891049	chr12:30407899-30407900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547751634	chr12:30407900-30407901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539643257	chr12:30407907-30407908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183947236	chr12:30407913-30407914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187180873	chr12:30407916-30407917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2564552	chr12:30407932-30407933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150898523	chr12:30407940-30407941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539001351	chr12:30407947-30407948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1652154	chr12:30407954-30407955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111880976	chr12:30407956-30407957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138290937	chr12:30407958-30407959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552980614	chr12:30407975-30407976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574632735	chr12:30407982-30407983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1652153	chr12:30407983-30407984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563265552	chr12:30407990-30407991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192711918	chr12:30407992-30407993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149611695	chr12:30407995-30407996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184282654	chr12:30408010-30408011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143980031	chr12:30408011-30408012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1652152	chr12:30408056-30408057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1731514	chr12:30408073-30408074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370658680	chr12:30408096-30408097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1731513	chr12:30408097-30408098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553624765	chr12:30408115-30408116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113256400	chr12:30408116-30408117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548315466	chr12:30408126-30408127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139600183	chr12:30408130-30408131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537186075	chr12:30408140-30408141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558620510	chr12:30408161-30408162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4931304	chr12:30408188-30408189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs534525298	chr12:30408304-30408305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553083806	chr12:30408310-30408311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17522050	chr12:30408321-30408322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1731512	chr12:30408334-30408335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs59708543	chr12:30408342-30408343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575289552	chr12:30408383-30408384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2564551	chr12:30408390-30408391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143224878	chr12:30408515-30408516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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 myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30404800-30410200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:30405200-30410200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:30405800-30408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:30406400-30410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:30409000-30409200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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