Variant report

Variant	esv1808857
Chromosome Location	chr12:45903118-45912862
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	chr12:45912837-45912936	ENSG00000257657.1
2	lnc-SCAF11-1	chr12:45912101-45912194	ENSG00000257657.1
3	lnc-SCAF11-1	chr12:45912837-45912936	ENSG00000257657.2
4	lnc-SCAF11-1	chr12:45912101-45912194	ENSG00000257657.2

No data

Variant related genes	Relation type
ENSG00000273015	chromatin interactions
ENSG00000189079	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148508214	chr12:45903135-45903136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201605853	chr12:45903154-45903155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538645737	chr12:45903170-45903171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556645077	chr12:45903172-45903173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12298570	chr12:45903265-45903266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189600877	chr12:45903284-45903285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562035172	chr12:45903319-45903320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12317115	chr12:45903327-45903328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375542921	chr12:45903368-45903369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541244701	chr12:45903393-45903394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144462910	chr12:45903465-45903466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533228264	chr12:45903499-45903500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550844100	chr12:45903553-45903554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551406127	chr12:45903560-45903561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563719251	chr12:45903561-45903562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533895362	chr12:45903571-45903572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11183077	chr12:45903628-45903629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369787647	chr12:45903760-45903761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567543657	chr12:45903803-45903804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555616054	chr12:45903870-45903871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11183078	chr12:45903913-45903914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11183079	chr12:45903921-45903922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562589546	chr12:45903963-45903964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79432593	chr12:45904030-45904031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538312665	chr12:45904045-45904046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75461714	chr12:45904066-45904067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375841652	chr12:45904075-45904076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146632778	chr12:45904116-45904117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535829025	chr12:45904118-45904119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537485194	chr12:45904123-45904124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369262879	chr12:45904136-45904137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573967596	chr12:45904174-45904175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555758580	chr12:45904188-45904189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141475566	chr12:45904199-45904200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111973617	chr12:45910608-45910609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10785578	chr12:45910614-45910615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191177429	chr12:45910647-45910648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543583126	chr12:45910649-45910650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562227193	chr12:45910659-45910660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181210950	chr12:45910667-45910668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529332385	chr12:45910791-45910792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547775190	chr12:45910807-45910808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79995647	chr12:45910816-45910817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73286941	chr12:45910846-45910847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs116102540	chr12:45910951-45910952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12303449	chr12:45910982-45910983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186696489	chr12:45911026-45911027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190536731	chr12:45911067-45911068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549789232	chr12:45911109-45911110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183093504	chr12:45911178-45911179	Enhancers	n/a	n/a	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45902800-45903200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:45902800-45903200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:45902800-45903400	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:45902800-45903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:45902800-45903600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45902800-45903600	Enhancers	Fetal Thymus	thymus
7	chr12:45902800-45903600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:45903000-45903400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:45903000-45903600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:45903000-45904200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:45910600-45912600	Enhancers	Thymus	Thymus
12	chr12:45910600-45913800	Enhancers	Fetal Thymus	thymus
13	chr12:45910800-45912200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:45911000-45913000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:45911400-45912000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:45911400-45913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:45911800-45913000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:45911800-45913000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:45911800-45913200	Enhancers	Primary T cells from cord blood	blood
20	chr12:45911800-45913200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:45912000-45912200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:45912000-45912200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr12:45912000-45912400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:45912000-45912600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:45912000-45912800	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:45912000-45913000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:45912000-45913000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:45912000-45913200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:45912000-45913200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:45912000-45913200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:45912200-45912600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:45912200-45912600	Enhancers	GM12878-XiMat	blood
33	chr12:45912200-45912800	Enhancers	Primary B cells from cord blood	blood
34	chr12:45912200-45912800	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:45912200-45912800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr12:45912200-45912800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:45912200-45913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:45912200-45913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:45912200-45913000	Enhancers	NHEK	skin
40	chr12:45912400-45912800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:45912400-45912800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr12:45912400-45913000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:45912400-45913200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:45912600-45912800	Flanking Active TSS	Thymus	Thymus
45	chr12:45912600-45912800	Flanking Active TSS	GM12878-XiMat	blood
46	chr12:45912600-45913000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr12:45912800-45913000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:45912800-45913000	Enhancers	GM12878-XiMat	blood
49	chr12:45912800-45913200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:45912800-45914000	Enhancers	Thymus	Thymus

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