Variant report

Variant	nsv525579
Chromosome Location	chr12:4816890-4822915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4819538..4821832-chr12:4825650..4828187,2	K562	blood:
2	chr12:4815512..4817728-chr12:4824833..4826836,2	K562	blood:

Extended variants
information (count: 221 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10774265	chr12:4816890-4816891	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192888143	chr12:4816899-4816900	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530710834	chr12:4816977-4816978	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563224321	chr12:4817004-4817005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185885908	chr12:4817044-4817045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190307926	chr12:4817129-4817130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192784817	chr12:4817130-4817131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183665990	chr12:4817195-4817196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373666064	chr12:4817198-4817199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376662650	chr12:4817217-4817218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188768082	chr12:4817256-4817257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535567950	chr12:4817285-4817286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141977231	chr12:4817301-4817302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529029837	chr12:4817309-4817310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537454804	chr12:4817322-4817323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7962439	chr12:4817356-4817357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150719387	chr12:4817386-4817387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201511244	chr12:4817423-4817424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139007290	chr12:4817531-4817532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140177989	chr12:4817559-4817560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377337580	chr12:4817560-4817561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57001466	chr12:4817561-4817562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574029052	chr12:4817593-4817594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11835306	chr12:4817664-4817665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562729773	chr12:4817694-4817695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144050108	chr12:4817717-4817718	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551822549	chr12:4817751-4817752	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs550647405	chr12:4817870-4817871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112771287	chr12:4817911-4817912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532560086	chr12:4817913-4817914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546798835	chr12:4817974-4817975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367988723	chr12:4818010-4818011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186126075	chr12:4818011-4818012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549024393	chr12:4818024-4818025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552571259	chr12:4818029-4818030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60915224	chr12:4818064-4818065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200247826	chr12:4818066-4818067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190393849	chr12:4818082-4818083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557344527	chr12:4818111-4818112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76097204	chr12:4818176-4818177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77301451	chr12:4818177-4818178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7132325	chr12:4818185-4818186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181713296	chr12:4818232-4818233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534249028	chr12:4818257-4818258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145978363	chr12:4818287-4818288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574215226	chr12:4818302-4818303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542861170	chr12:4818397-4818398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11610284	chr12:4818432-4818433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139864290	chr12:4818441-4818442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557233133	chr12:4818488-4818489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4798400-4817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:4799600-4826800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:4804200-4817200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:4806600-4817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:4807400-4823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:4810000-4827200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:4810200-4817200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:4810400-4817200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:4810600-4817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:4811200-4833600	Weak transcription	Brain Germinal Matrix	brain
11	chr12:4812400-4819000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:4816600-4817000	Flanking Active TSS	Liver	Liver
13	chr12:4817000-4817600	Enhancers	Liver	Liver
14	chr12:4817000-4817800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:4817200-4817400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:4817200-4817600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:4817200-4817600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:4817200-4817600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:4817200-4817800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:4817600-4817800	Flanking Active TSS	HSMM	muscle
21	chr12:4817600-4821800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:4817600-4823800	Weak transcription	Liver	Liver
23	chr12:4817800-4825000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:4818400-4820000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:4819000-4819200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:4819000-4819200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr12:4819200-4820800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:4820800-4822200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:4822200-4824000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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