Variant report

Variant	nsv1042513
Chromosome Location	chr14:83742474-83769252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:83766559..83767404-chr14:85597812..85598521,2	MCF-7	breast:
2	chr14:83766531..83767077-chr14:85994611..85995139,2	MCF-7	breast:
3	chr14:83766556..83767082-chr14:83929752..83930344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258945	chromatin interactions

Extended variants
information (count: 697 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:697 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572190998	chr14:83748251-83748252	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs568374741	chr14:83748273-83748274	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs536446996	chr14:83748305-83748306	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs145719054	chr14:83748321-83748322	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs149099048	chr14:83748331-83748332	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs543461436	chr14:83748341-83748342	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs553077836	chr14:83748357-83748358	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564821594	chr14:83748386-83748387	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs564240130	chr14:83749053-83749054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190090503	chr14:83749108-83749109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546936450	chr14:83749145-83749146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374251257	chr14:83749178-83749179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147860773	chr14:83749229-83749230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377091956	chr14:83749233-83749234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548413617	chr14:83749250-83749251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569905439	chr14:83749353-83749354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141329728	chr14:83749382-83749383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573080248	chr14:83749396-83749397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540986765	chr14:83749404-83749405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182150272	chr14:83749478-83749479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184908979	chr14:83749483-83749484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17118311	chr14:83749499-83749500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535744863	chr14:83749533-83749534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374412203	chr14:83749534-83749535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146990977	chr14:83749537-83749538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188451236	chr14:83749558-83749559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76669028	chr14:83749577-83749578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557224081	chr14:83749591-83749592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533252573	chr14:83749600-83749601	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575482566	chr14:83749630-83749631	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112090389	chr14:83749631-83749632	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112439394	chr14:83749666-83749667	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180810237	chr14:83749675-83749676	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564435474	chr14:83749677-83749678	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56687444	chr14:83749708-83749709	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74838896	chr14:83749748-83749749	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117819098	chr14:83749771-83749772	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185815441	chr14:83749830-83749831	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs137997241	chr14:83749832-83749833	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563547603	chr14:83749898-83749899	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61982291	chr14:83749904-83749905	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191272042	chr14:83749923-83749924	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4904114	chr14:83749931-83749932	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567615143	chr14:83749961-83749962	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370301013	chr14:83749964-83749965	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75284188	chr14:83749989-83749990	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560169965	chr14:83753801-83753802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190120935	chr14:83753842-83753843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75791695	chr14:83753885-83753886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147844477	chr14:83753953-83753954	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83748200-83748400	Bivalent Enhancer	Pancreas	Pancrea
2	chr14:83749000-83749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:83749000-83750000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:83749400-83749800	Enhancers	Fetal Brain Male	brain
5	chr14:83749600-83750000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:83749600-83750000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:83753800-83754600	Enhancers	Pancreas	Pancrea
8	chr14:83754200-83755200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:83754400-83754800	Enhancers	Ovary	ovary
10	chr14:83754400-83755600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:83755600-83756200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr14:83755600-83756400	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:83755800-83758800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:83756000-83757200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:83756200-83756600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:83757000-83758600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr14:83757200-83760800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:83760800-83762200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:83761000-83761800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:83761000-83761800	Enhancers	HSMM	muscle
21	chr14:83761000-83762200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:83761200-83761800	Enhancers	NH-A	brain
23	chr14:83761400-83761800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:83761600-83762200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:83761800-83766800	Weak transcription	HSMM	muscle
26	chr14:83762200-83766600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:83762600-83762800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:83766600-83767400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:83766800-83767200	Enhancers	HSMM	muscle
30	chr14:83766800-83768600	Enhancers	Fetal Brain Female	brain
31	chr14:83766800-83769000	Enhancers	Fetal Brain Male	brain
32	chr14:83767200-83768400	Weak transcription	HSMM	muscle
33	chr14:83767400-83768800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr14:83767600-83768600	Enhancers	Brain Germinal Matrix	brain
35	chr14:83768000-83768600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:83768400-83768600	Enhancers	HSMM	muscle

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