Variant report

Variant	nsv511765
Chromosome Location	chr2:11993304-11996344
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	chr2:11988582..11990167-chr2:11992928..11995278,2	K562	blood:
2	chr2:11987561..11990167-chr2:11991624..11995278,3	K562	blood:

Variant related genes	Relation type
ENSG00000224184	chromatin interactions

Extended variants
information (count: 258 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551931929	chr2:11993338-11993339	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557297042	chr2:11993339-11993340	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569136484	chr2:11993359-11993360	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2716631	chr2:11993363-11993364	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555095842	chr2:11993382-11993383	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13422011	chr2:11993385-11993386	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147427429	chr2:11993386-11993387	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144236411	chr2:11993449-11993450	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567542874	chr2:11993455-11993456	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577838605	chr2:11993466-11993467	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182409236	chr2:11993508-11993509	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372464934	chr2:11993542-11993543	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4669782	chr2:11993544-11993545	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530417862	chr2:11993597-11993598	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539765404	chr2:11993608-11993609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542264786	chr2:11993616-11993617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560605633	chr2:11993650-11993651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556670586	chr2:11993659-11993660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139268637	chr2:11993671-11993672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547137729	chr2:11993707-11993708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs13396102	chr2:11993712-11993713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532770482	chr2:11993734-11993735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73917856	chr2:11993736-11993737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570164927	chr2:11993845-11993846	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2577249	chr2:11993848-11993849	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145287456	chr2:11993872-11993873	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62114992	chr2:11993893-11993894	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149154490	chr2:11993898-11993899	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73917857	chr2:11993914-11993915	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143803307	chr2:11994011-11994012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577744987	chr2:11994014-11994015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545231677	chr2:11994015-11994016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199757105	chr2:11994022-11994023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556974322	chr2:11994030-11994031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112868191	chr2:11994032-11994033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111520807	chr2:11994041-11994042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542179414	chr2:11994044-11994045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112247787	chr2:11994045-11994046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528146809	chr2:11994049-11994050	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539929723	chr2:11994055-11994056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565027888	chr2:11994057-11994058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532593173	chr2:11994064-11994065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112417015	chr2:11994090-11994091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs62114993	chr2:11994097-11994098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs113081508	chr2:11994099-11994100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569530541	chr2:11994115-11994116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530433180	chr2:11994133-11994134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548570953	chr2:11994134-11994135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112033308	chr2:11994181-11994182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200206373	chr2:11994187-11994188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11990600-11995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11990600-11998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:11991400-11995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:11991800-12003000	Weak transcription	Right Atrium	heart
5	chr2:11992400-11994000	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:11992600-11993600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:11992600-11993600	Enhancers	Brain Hippocampus Middle	brain
8	chr2:11992800-11993600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:11992800-11993800	Enhancers	GM12878-XiMat	blood
10	chr2:11992800-11993800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:11993000-11993400	Bivalent/Poised TSS	Hela-S3	cervix
12	chr2:11993000-11993600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:11993000-11993800	Enhancers	Primary B cells from cord blood	blood
14	chr2:11993400-11993600	Enhancers	Lung	lung
15	chr2:11993600-11995400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:11993600-11996800	Weak transcription	Lung	lung
17	chr2:11993800-11994000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:11993800-11994000	Enhancers	Spleen	Spleen
19	chr2:11993800-11995000	Weak transcription	Primary B cells from cord blood	blood
20	chr2:11993800-11995600	Weak transcription	GM12878-XiMat	blood
21	chr2:11994000-11995000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:11994000-11995200	Weak transcription	Spleen	Spleen
23	chr2:11994800-12003600	Weak transcription	Gastric	stomach
24	chr2:11995000-11995200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:11995000-11995400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:11995000-11997800	Enhancers	Primary B cells from cord blood	blood
27	chr2:11995000-11999800	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:11995200-11995400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:11995200-11995400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr2:11995200-11995600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:11995200-11995800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:11995200-11995800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:11995200-11995800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr2:11995200-11995800	Enhancers	Spleen	Spleen
35	chr2:11995400-11995600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:11995400-11995600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:11995400-11996000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr2:11995400-11997000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:11995400-11997200	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr2:11995600-11995800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:11995600-11996400	Enhancers	GM12878-XiMat	blood
42	chr2:11995600-11996600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:11995600-11997000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:11995800-11996400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:11995800-11998600	Weak transcription	Spleen	Spleen
46	chr2:11996000-11996200	Enhancers	Fetal Muscle Trunk	muscle
47	chr2:11996000-11997000	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:11996200-11996400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr2:11996200-11996600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr2:11996200-11996800	Enhancers	K562	blood

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