Variant report

Variant	nsv558776
Chromosome Location	chr12:45903913-45913177
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45901440..45904259-chr12:45910126..45912673,2	MCF-7	breast:
2	chr12:45911413..45913925-chr12:46121246..46124442,3	MCF-7	breast:
3	chr12:45901440..45904259-chr12:45910126..45912673,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCAF11-1	chr12:45912101-45912194	ENSG00000257657.2
2	lnc-SCAF11-1	chr12:45912837-45912936	ENSG00000257657.2
3	lnc-SCAF11-1	chr12:45912837-45912936	ENSG00000257657.1
4	lnc-SCAF11-1	chr12:45912101-45912194	ENSG00000257657.1

No data

Variant related genes	Relation type
ENSG00000189079	chromatin interactions
ENSG00000273015	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11183078	chr12:45903913-45903914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11183079	chr12:45903921-45903922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562589546	chr12:45903963-45903964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79432593	chr12:45904030-45904031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538312665	chr12:45904045-45904046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75461714	chr12:45904066-45904067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375841652	chr12:45904075-45904076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146632778	chr12:45904116-45904117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535829025	chr12:45904118-45904119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537485194	chr12:45904123-45904124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369262879	chr12:45904136-45904137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573967596	chr12:45904174-45904175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555758580	chr12:45904188-45904189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141475566	chr12:45904199-45904200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111973617	chr12:45910608-45910609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10785578	chr12:45910614-45910615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191177429	chr12:45910647-45910648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543583126	chr12:45910649-45910650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562227193	chr12:45910659-45910660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181210950	chr12:45910667-45910668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529332385	chr12:45910791-45910792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547775190	chr12:45910807-45910808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79995647	chr12:45910816-45910817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73286941	chr12:45910846-45910847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116102540	chr12:45910951-45910952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12303449	chr12:45910982-45910983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186696489	chr12:45911026-45911027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190536731	chr12:45911067-45911068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549789232	chr12:45911109-45911110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183093504	chr12:45911178-45911179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186311300	chr12:45911302-45911303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs33971594	chr12:45911320-45911321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142241568	chr12:45911334-45911335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577599910	chr12:45911359-45911360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538226591	chr12:45911366-45911367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150167293	chr12:45911416-45911417	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555232209	chr12:45911439-45911440	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570791450	chr12:45911441-45911442	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75602901	chr12:45911442-45911443	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191050974	chr12:45911502-45911503	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs543617758	chr12:45911557-45911558	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555637669	chr12:45911559-45911560	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574176120	chr12:45911705-45911706	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs553967112	chr12:45911717-45911718	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377753553	chr12:45911725-45911726	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541210084	chr12:45911751-45911752	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs183566382	chr12:45911774-45911775	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533385184	chr12:45911798-45911799	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545384733	chr12:45911837-45911838	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs370396296	chr12:45911841-45911842	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45903000-45904200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:45910600-45912600	Enhancers	Thymus	Thymus
3	chr12:45910600-45913800	Enhancers	Fetal Thymus	thymus
4	chr12:45910800-45912200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:45911000-45913000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:45911400-45912000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:45911400-45913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:45911800-45913000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:45911800-45913000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:45911800-45913200	Enhancers	Primary T cells from cord blood	blood
11	chr12:45911800-45913200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:45912000-45912200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:45912000-45912200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:45912000-45912400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:45912000-45912600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:45912000-45912800	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:45912000-45913000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:45912000-45913000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:45912000-45913200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:45912000-45913200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:45912000-45913200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr12:45912200-45912600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:45912200-45912600	Enhancers	GM12878-XiMat	blood
24	chr12:45912200-45912800	Enhancers	Primary B cells from cord blood	blood
25	chr12:45912200-45912800	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:45912200-45912800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr12:45912200-45912800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:45912200-45913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:45912200-45913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:45912200-45913000	Enhancers	NHEK	skin
31	chr12:45912400-45912800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:45912400-45912800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr12:45912400-45913000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:45912400-45913200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:45912600-45912800	Flanking Active TSS	Thymus	Thymus
36	chr12:45912600-45912800	Flanking Active TSS	GM12878-XiMat	blood
37	chr12:45912600-45913000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:45912800-45913000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr12:45912800-45913000	Enhancers	GM12878-XiMat	blood
40	chr12:45912800-45913200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:45912800-45914000	Enhancers	Thymus	Thymus
42	chr12:45912800-45916000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:45913000-45915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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