Variant report

Variant	nsv1050757
Chromosome Location	chr12:30288879-30329142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29705003..29705553-chr12:30288330..30288940,2	MCF-7	breast:
2	chr12:30307525..30310508-chr12:30315898..30318662,2	K562	blood:
3	chr10:66245243..66246004-chr12:30303874..30304490,2	MCF-7	breast:
4	chr12:30307525..30310508-chr12:30315898..30318662,2	K562	blood:

Extended variants
information (count: 916 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561378839	chr12:30288881-30288882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576559740	chr12:30288884-30288885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73091018	chr12:30288907-30288908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4930886	chr12:30288932-30288933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532340972	chr12:30288939-30288940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140284975	chr12:30288977-30288978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559360446	chr12:30288981-30288982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529658933	chr12:30289054-30289055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547740584	chr12:30289126-30289127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376647670	chr12:30289169-30289170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569413180	chr12:30289182-30289183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536742789	chr12:30289190-30289191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550002417	chr12:30289247-30289248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571795371	chr12:30289248-30289249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144014403	chr12:30289280-30289281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79333451	chr12:30289298-30289299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537648058	chr12:30289320-30289321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183274178	chr12:30289365-30289366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374134150	chr12:30289391-30289392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536651640	chr12:30289413-30289414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1385562	chr12:30289480-30289481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1385563	chr12:30289493-30289494	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543921976	chr12:30289506-30289507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188237660	chr12:30289555-30289556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537412980	chr12:30289667-30289668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558970020	chr12:30289701-30289702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374641203	chr12:30289713-30289714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563150480	chr12:30289714-30289715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564963889	chr12:30289719-30289720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs193175027	chr12:30289724-30289725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368613899	chr12:30289732-30289733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80273529	chr12:30289922-30289923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1909183	chr12:30289950-30289951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11829512	chr12:30289970-30289971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184654725	chr12:30290002-30290003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140757812	chr12:30290007-30290008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150171292	chr12:30290022-30290023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542191009	chr12:30290023-30290024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530553818	chr12:30290065-30290066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552227431	chr12:30290081-30290082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189971805	chr12:30290090-30290091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138629011	chr12:30290097-30290098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547629620	chr12:30290107-30290108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78382044	chr12:30290122-30290123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35453106	chr12:30290152-30290153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59507162	chr12:30290171-30290172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10771639	chr12:30290197-30290198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12366875	chr12:30290200-30290201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191383751	chr12:30290215-30290216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112838946	chr12:30290233-30290234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30285800-30291200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:30288200-30289800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:30288400-30289600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:30288600-30289400	Enhancers	Fetal Lung	lung
5	chr12:30288600-30289600	Enhancers	NHDF-Ad	bronchial
6	chr12:30288600-30289800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:30288600-30290000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:30289000-30289600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:30291000-30291400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:30291000-30291600	Enhancers	Right Atrium	heart
11	chr12:30291200-30291400	Enhancers	HSMMtube	muscle
12	chr12:30291200-30292200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:30291200-30292200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:30294200-30294400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:30294400-30297800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:30296400-30296600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:30296600-30297600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:30297200-30299200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:30297200-30299200	Enhancers	HSMM	muscle
20	chr12:30297400-30298600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:30297400-30299200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:30297400-30299400	Enhancers	NHDF-Ad	bronchial
23	chr12:30297600-30298400	Enhancers	Fetal Brain Female	brain
24	chr12:30297600-30298800	Enhancers	Brain Germinal Matrix	brain
25	chr12:30297600-30299200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:30297600-30299200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:30297600-30299200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:30297600-30300600	Enhancers	HSMMtube	muscle
29	chr12:30297800-30298400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:30297800-30298600	Enhancers	Brain Substantia Nigra	brain
31	chr12:30297800-30298800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:30297800-30299200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:30298000-30298400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:30298000-30299200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:30298000-30299400	Enhancers	Osteobl	bone
36	chr12:30298200-30299200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:30298200-30299200	Enhancers	NH-A	brain
38	chr12:30298400-30299200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:30299200-30300400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:30304800-30305200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:30305200-30306000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:30305200-30306000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr12:30307600-30309200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:30307800-30308600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr12:30307800-30309200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:30308000-30309000	Enhancers	Osteobl	bone
47	chr12:30308200-30309000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:30308400-30308800	Enhancers	HSMM	muscle
49	chr12:30308400-30309000	Enhancers	NHDF-Ad	bronchial
50	chr12:30311200-30312000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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