Variant report

Variant	nsv691
Chromosome Location	chr12:45896295-45946455
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:39)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45934191..45936111-chr12:45937786..45940550,2	MCF-7	breast:
2	chr12:45901440..45904259-chr12:45910126..45912673,2	MCF-7	breast:
3	chr12:45932625..45935363-chr12:45935475..45937376,2	K562	blood:
4	chr12:45891586..45893830-chr12:45896863..45899327,2	MCF-7	breast:
5	chr12:45911413..45913925-chr12:46121246..46124442,3	MCF-7	breast:
6	chr12:45937645..45942060-chr12:45942145..45945791,6	K562	blood:
7	chr12:45867911..45870398-chr12:45938179..45940092,2	K562	blood:
8	chr12:45901440..45904259-chr12:45910126..45912673,2	MCF-7	breast:
9	chr12:45937724..45939277-chr12:45945572..45947346,2	MCF-7	breast:
10	chr12:45939862..45941982-chr12:45942145..45944369,2	K562	blood:
11	chr12:45929506..45931290-chr12:46120162..46122586,2	MCF-7	breast:
12	chr12:45932018..45945296-chr12:46116937..46125620,30	MCF-7	breast:
13	chr12:45894701..45896615-chr12:45915195..45917105,2	MCF-7	breast:
14	chr12:45938673..45940532-chr12:45941016..45942628,2	MCF-7	breast:
15	chr12:45940816..45942865-chr12:45947485..45949791,2	MCF-7	breast:
16	chr12:45940844..45942797-chr12:46119656..46122517,2	K562	blood:
17	chr12:45936322..45939526-chr12:46119139..46122745,5	MCF-7	breast:
18	chr12:45894009..45896602-chr12:46122436..46125409,2	MCF-7	breast:
19	chr12:45926815..45928655-chr12:46130897..46132547,2	MCF-7	breast:
20	chr12:45894701..45896615-chr12:45915195..45917105,2	MCF-7	breast:
21	chr12:45925922..45928759-chr12:45930090..45931726,2	MCF-7	breast:
22	chr12:45939862..45941982-chr12:45942145..45944369,2	K562	blood:
23	chr12:45929552..45932497-chr12:45935767..45937875,2	MCF-7	breast:
24	chr12:45937645..45942060-chr12:45942145..45945791,6	K562	blood:
25	chr12:45943439..45945382-chr12:46120675..46122919,3	MCF-7	breast:
26	chr12:45929552..45932497-chr12:45935767..45937875,2	MCF-7	breast:
27	chr12:45942458..45944629-chr12:45945848..45948154,2	K562	blood:
28	chr12:45941376..45942308-chr12:46118994..46119772,3	MCF-7	breast:
29	chr12:45939592..45943310-chr12:46118770..46124565,10	MCF-7	breast:
30	chr12:45925922..45928759-chr12:45930090..45931726,2	MCF-7	breast:
31	chr12:45942458..45944629-chr12:45945848..45948154,2	K562	blood:
32	chr12:45941297..45944696-chr12:46119825..46122754,3	K562	blood:
33	chr12:45937468..45938113-chr12:46048779..46049454,2	MCF-7	breast:
34	chr12:45937305..45937822-chr12:46139716..46140271,2	MCF-7	breast:
35	chr12:45923564..45926208-chr12:46122696..46124400,2	MCF-7	breast:
36	chr12:45938673..45940532-chr12:45941016..45942628,2	MCF-7	breast:
37	chr12:45937724..45939277-chr12:45945572..45947346,2	MCF-7	breast:
38	chr12:45932625..45935363-chr12:45935475..45937376,2	K562	blood:
39	chr12:45934191..45936111-chr12:45937786..45940550,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000239178	chromatin interactions
ENSG00000189079	chromatin interactions
ENSG00000273015	chromatin interactions

Extended variants
information (count: 1595 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1595 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12824476	chr12:45896306-45896307	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs12830375	chr12:45896312-45896313	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs71461120	chr12:45896389-45896390	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577825023	chr12:45896432-45896433	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545044268	chr12:45896447-45896448	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs12825447	chr12:45896466-45896467	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs12823248	chr12:45896468-45896469	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs550852388	chr12:45896526-45896527	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556779902	chr12:45896530-45896531	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs55987343	chr12:45896565-45896566	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542243720	chr12:45896701-45896702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137860639	chr12:45896727-45896728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529517461	chr12:45896799-45896800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141624569	chr12:45896823-45896824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559473938	chr12:45896825-45896826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533358403	chr12:45896868-45896869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2408272	chr12:45896919-45896920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375512507	chr12:45896951-45896952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11183072	chr12:45896973-45896974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192545572	chr12:45897002-45897003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150522036	chr12:45897004-45897005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35156431	chr12:45897031-45897032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183778098	chr12:45897049-45897050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371921138	chr12:45897053-45897054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188454825	chr12:45897055-45897056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552460909	chr12:45897058-45897059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571468263	chr12:45897066-45897067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561579453	chr12:45897088-45897089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2408273	chr12:45897099-45897100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557054459	chr12:45897131-45897132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575228287	chr12:45897263-45897264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542629991	chr12:45897271-45897272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139613724	chr12:45897327-45897328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181255495	chr12:45897328-45897329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369452837	chr12:45897329-45897330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149328196	chr12:45897341-45897342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559608827	chr12:45897362-45897363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533607739	chr12:45897585-45897586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545249499	chr12:45897597-45897598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147397721	chr12:45897683-45897684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528249927	chr12:45897688-45897689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs5797946	chr12:45897689-45897690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560252092	chr12:45897690-45897691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530872397	chr12:45897698-45897699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398116400	chr12:45897702-45897703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546425058	chr12:45897713-45897714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1986909	chr12:45897734-45897735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139667913	chr12:45897760-45897761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145408511	chr12:45897779-45897780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147691515	chr12:45897788-45897789	Weak transcription	n/a	n/a	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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45892200-45901600	Weak transcription	Pancreas	Pancrea
2	chr12:45895800-45896600	Enhancers	Fetal Lung	lung
3	chr12:45896200-45896800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:45896800-45901600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:45901600-45901800	ZNF genes & repeats	Pancreas	Pancrea
6	chr12:45901600-45902000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:45902000-45903000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:45902800-45903200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:45902800-45903200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:45902800-45903400	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:45902800-45903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:45902800-45903600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:45902800-45903600	Enhancers	Fetal Thymus	thymus
14	chr12:45902800-45903600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:45903000-45903400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:45903000-45903600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr12:45903000-45904200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:45910600-45912600	Enhancers	Thymus	Thymus
19	chr12:45910600-45913800	Enhancers	Fetal Thymus	thymus
20	chr12:45910800-45912200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:45911000-45913000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr12:45911400-45912000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:45911400-45913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:45911800-45913000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:45911800-45913000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:45911800-45913200	Enhancers	Primary T cells from cord blood	blood
27	chr12:45911800-45913200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:45912000-45912200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:45912000-45912200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr12:45912000-45912400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:45912000-45912600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:45912000-45912800	Enhancers	Primary hematopoietic stem cells	blood
33	chr12:45912000-45913000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:45912000-45913000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:45912000-45913200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:45912000-45913200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:45912000-45913200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:45912200-45912600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr12:45912200-45912600	Enhancers	GM12878-XiMat	blood
40	chr12:45912200-45912800	Enhancers	Primary B cells from cord blood	blood
41	chr12:45912200-45912800	Enhancers	Primary B cells from peripheral blood	blood
42	chr12:45912200-45912800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr12:45912200-45912800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:45912200-45913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:45912200-45913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:45912200-45913000	Enhancers	NHEK	skin
47	chr12:45912400-45912800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:45912400-45912800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr12:45912400-45913000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:45912400-45913200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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