Variant report

Variant	nsv508672
Chromosome Location	chr12:45884730-45931091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45883877..45886088-chr12:45891473..45895322,3	MCF-7	breast:
2	chr12:45885758..45887965-chr12:45892446..45895121,2	K562	blood:
3	chr12:45883877..45886088-chr12:45891473..45895322,3	MCF-7	breast:
4	chr12:45925922..45928759-chr12:45930090..45931726,2	MCF-7	breast:
5	chr12:45929506..45931290-chr12:46120162..46122586,2	MCF-7	breast:
6	chr12:45883996..45884939-chr12:46283903..46284713,3	MCF-7	breast:
7	chr12:45894701..45896615-chr12:45915195..45917105,2	MCF-7	breast:
8	chr12:45929552..45932497-chr12:45935767..45937875,2	MCF-7	breast:
9	chr1:145457208..145457776-chr12:45889810..45890653,2	K562	blood:
10	chr12:45901440..45904259-chr12:45910126..45912673,2	MCF-7	breast:
11	chr12:45885758..45887965-chr12:45892446..45895121,2	K562	blood:
12	chr12:45926815..45928655-chr12:46130897..46132547,2	MCF-7	breast:
13	chr12:45901440..45904259-chr12:45910126..45912673,2	MCF-7	breast:
14	chr12:45881557..45885323-chr12:45885771..45888559,3	MCF-7	breast:
15	chr12:45881557..45885323-chr12:45885771..45888559,3	MCF-7	breast:
16	chr12:45891586..45893830-chr12:45896863..45899327,2	MCF-7	breast:
17	chr12:45925922..45928759-chr12:45930090..45931726,2	MCF-7	breast:
18	chr12:45891586..45893830-chr12:45896863..45899327,2	MCF-7	breast:
19	chr12:45911413..45913925-chr12:46121246..46124442,3	MCF-7	breast:
20	chr12:45894701..45896615-chr12:45915195..45917105,2	MCF-7	breast:
21	chr12:45894009..45896602-chr12:46122436..46125409,2	MCF-7	breast:
22	chr12:45884919..45887471-chr12:46121844..46123759,2	MCF-7	breast:
23	chr12:45923564..45926208-chr12:46122696..46124400,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCAF11-7	chr12:45896215-45896314	refGeneNc_2367_NR_026544
2	lnc-SCAF11-1	chr12:45912837-45912936	ENSG00000257657.2
3	lnc-SCAF11-1	chr12:45912101-45912194	ENSG00000257657.2
4	lnc-SCAF11-7	chr12:45888470-45890811	refGeneNc_2367_NR_026544
5	lnc-SCAF11-1	chr12:45912837-45912936	ENSG00000257657.1
6	lnc-SCAF11-7	chr12:45896434-45896493	refGeneNc_2367_NR_026544
7	lnc-SCAF11-1	chr12:45912101-45912194	ENSG00000257657.1

No data

Variant related genes	Relation type
ENSG00000273015	chromatin interactions
ENSG00000189079	chromatin interactions

Extended variants
information (count: 1375 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1375 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188620805	chr12:45884970-45884971	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117228612	chr12:45884974-45884975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543834450	chr12:45884983-45884984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555709616	chr12:45884989-45884990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575861297	chr12:45885056-45885057	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543262471	chr12:45885087-45885088	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561323740	chr12:45885102-45885103	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12228136	chr12:45885163-45885164	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs58925313	chr12:45885195-45885196	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540459813	chr12:45885222-45885223	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190768702	chr12:45885240-45885241	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs74657985	chr12:45885247-45885248	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12832353	chr12:45885279-45885280	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78330372	chr12:45885283-45885284	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529949416	chr12:45885320-45885321	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116463665	chr12:45885357-45885358	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566647440	chr12:45885375-45885376	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534030540	chr12:45885377-45885378	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183297203	chr12:45885403-45885404	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570237412	chr12:45885415-45885416	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs74081888	chr12:45885459-45885460	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146712319	chr12:45885465-45885466	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187973243	chr12:45885485-45885486	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541454624	chr12:45885495-45885496	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577867129	chr12:45885503-45885504	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs17095999	chr12:45885506-45885507	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544978736	chr12:45885512-45885513	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573441236	chr12:45885528-45885529	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140347234	chr12:45885552-45885553	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191278903	chr12:45885603-45885604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75690748	chr12:45885604-45885605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12303153	chr12:45885657-45885658	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572286746	chr12:45885705-45885706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562967770	chr12:45885723-45885724	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145494843	chr12:45885726-45885727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184502374	chr12:45885739-45885740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369536473	chr12:45885755-45885756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566788047	chr12:45885759-45885760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187784467	chr12:45885768-45885769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368699597	chr12:45885780-45885781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374262080	chr12:45885782-45885783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551967609	chr12:45885786-45885787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192912094	chr12:45885794-45885795	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs59494087	chr12:45885799-45885800	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573506883	chr12:45885831-45885832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs78929115	chr12:45885874-45885875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368021751	chr12:45885879-45885880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568052712	chr12:45885888-45885889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535468049	chr12:45885931-45885932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141905228	chr12:45885954-45885955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45885000-45885400	Enhancers	Colon Smooth Muscle	Colon
2	chr12:45885000-45885600	Enhancers	Stomach Smooth Muscle	stomach
3	chr12:45885200-45885600	Enhancers	Fetal Stomach	stomach
4	chr12:45892000-45892200	Enhancers	Pancreas	Pancrea
5	chr12:45892200-45901600	Weak transcription	Pancreas	Pancrea
6	chr12:45895800-45896600	Enhancers	Fetal Lung	lung
7	chr12:45896200-45896800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:45896800-45901600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:45901600-45901800	ZNF genes & repeats	Pancreas	Pancrea
10	chr12:45901600-45902000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:45902000-45903000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:45902800-45903200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:45902800-45903200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:45902800-45903400	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:45902800-45903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:45902800-45903600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:45902800-45903600	Enhancers	Fetal Thymus	thymus
18	chr12:45902800-45903600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:45903000-45903400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:45903000-45903600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:45903000-45904200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:45910600-45912600	Enhancers	Thymus	Thymus
23	chr12:45910600-45913800	Enhancers	Fetal Thymus	thymus
24	chr12:45910800-45912200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:45911000-45913000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:45911400-45912000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:45911400-45913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:45911800-45913000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:45911800-45913000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:45911800-45913200	Enhancers	Primary T cells from cord blood	blood
31	chr12:45911800-45913200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:45912000-45912200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:45912000-45912200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:45912000-45912400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:45912000-45912600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:45912000-45912800	Enhancers	Primary hematopoietic stem cells	blood
37	chr12:45912000-45913000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:45912000-45913000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:45912000-45913200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:45912000-45913200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr12:45912000-45913200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr12:45912200-45912600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr12:45912200-45912600	Enhancers	GM12878-XiMat	blood
44	chr12:45912200-45912800	Enhancers	Primary B cells from cord blood	blood
45	chr12:45912200-45912800	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:45912200-45912800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr12:45912200-45912800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:45912200-45913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr12:45912200-45913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:45912200-45913000	Enhancers	NHEK	skin

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