Variant report

Variant	nsv557981
Chromosome Location	chr12:30229606-30243473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 418 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7964334	chr12:30229606-30229607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568927616	chr12:30229659-30229660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1909177	chr12:30229728-30229729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530254084	chr12:30229777-30229778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559075915	chr12:30229793-30229794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577142633	chr12:30229800-30229801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548693561	chr12:30229801-30229802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116199979	chr12:30229814-30229815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553237586	chr12:30229823-30229824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574533730	chr12:30229839-30229840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374841272	chr12:30229874-30229875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74083126	chr12:30229933-30229934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185420429	chr12:30229955-30229956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530994716	chr12:30229986-30229987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570310873	chr12:30230006-30230007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545694370	chr12:30230103-30230104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564243814	chr12:30230138-30230139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528272277	chr12:30230163-30230164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150430162	chr12:30230190-30230191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568350174	chr12:30230223-30230224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2351206	chr12:30230224-30230225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2351207	chr12:30230255-30230256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568877861	chr12:30230292-30230293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149566952	chr12:30230293-30230294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534093764	chr12:30230312-30230313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557548220	chr12:30230389-30230390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570746792	chr12:30230451-30230452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144226442	chr12:30230508-30230509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74083127	chr12:30230509-30230510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139032097	chr12:30230551-30230552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201366520	chr12:30230608-30230609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541867164	chr12:30230681-30230682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10743690	chr12:30230727-30230728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575670201	chr12:30230754-30230755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546305975	chr12:30230755-30230756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564555684	chr12:30230812-30230813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573114078	chr12:30230838-30230839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540422552	chr12:30230858-30230859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373958611	chr12:30230876-30230877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113057523	chr12:30230892-30230893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75571798	chr12:30230898-30230899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529143918	chr12:30230901-30230902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1909178	chr12:30231005-30231006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs541198292	chr12:30231012-30231013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562533420	chr12:30231051-30231052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532777584	chr12:30231118-30231119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112068739	chr12:30231140-30231141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369780363	chr12:30231163-30231164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571691726	chr12:30231176-30231177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113472059	chr12:30231225-30231226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30223000-30234200	Weak transcription	Aorta	Aorta
2	chr12:30237200-30237800	Enhancers	Stomach Smooth Muscle	stomach
3	chr12:30237800-30241400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:30239400-30242200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:30239600-30240000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:30240000-30240400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:30240400-30240600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:30240600-30241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:30241400-30241800	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:30241400-30241800	Active TSS	Stomach Smooth Muscle	stomach
11	chr12:30241400-30242200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:30241600-30242000	Enhancers	HSMM	muscle
13	chr12:30241800-30243400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:30242200-30243400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:30243400-30243600	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:30243400-30243800	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links